52616002: Freeman-Sheldon syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Deformity (finding)\Congenital deformity\Arthrogryposis (disorder)\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Deformity (finding)\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis (disorder)\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis (disorder)\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.

\Head finding (finding)\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.

\Finding of movement\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis (disorder)\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis (disorder)\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.

\Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis (disorder)\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis (disorder)\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Musculoskeletal finding\Joint finding\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis (disorder)\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis (disorder)\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis (disorder)\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.

\Disease\Disorder of joint region\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis (disorder)\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Disease\Disorder of joint region\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis (disorder)\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis (disorder)\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital deformity\Arthrogryposis (disorder)\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis (disorder)\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis (disorder)\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis (disorder)\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis (disorder)\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3425567013 A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

87570012 Freeman-Sheldon syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

87571011 Whistling face syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

790645014 Freeman-Sheldon syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3425566016 Distal arthrogryposis type 2A en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

1441491000005119 Freeman-Sheldons syndrom da Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Is a	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	false	Inferred relationship	Some
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Is a	Congenital anomaly of face	false	Inferred relationship	Some
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Finding site	Face structure	false	Inferred relationship	Some
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Finding site	Brain structure	false	Inferred relationship	Some	3
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Occurrence	Congenital	false	Inferred relationship	Some
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Associated morphology	kongenit anomali	false	Inferred relationship	Some	2
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Is a	Autosomal dominant hereditary disorder	false	Inferred relationship	Some
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Is a	Congenital anomaly of face bones	true	Inferred relationship	Some
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Finding site	Bone structure of face	false	Inferred relationship	Some	2
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Associated morphology	Kongenit malformation	false	Inferred relationship	Some	1
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Associated morphology	Kongenit malformation	false	Inferred relationship	Some	2
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Some
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Associated morphology	kongenit anomali	false	Inferred relationship	Some	3
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Finding site	Bone structure of cranium	false	Inferred relationship	Some	3
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Associated morphology	Kongenit malformation	false	Inferred relationship	Some	2
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Associated morphology	Kongenit malformation	false	Inferred relationship	Some	3
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Finding site	Bone structure of face	false	Inferred relationship	Some	1
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Associated morphology	Kongenit malformation	false	Inferred relationship	Some	1
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Occurrence	Congenital	true	Inferred relationship	Some	2
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Associated morphology	dysgenese	false	Inferred relationship	Some	2
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Finding site	Bone structure of face	true	Inferred relationship	Some	2
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Occurrence	Congenital	true	Inferred relationship	Some	1
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Is a	A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.	true	Inferred relationship	Some
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Associated morphology	Contracture	true	Inferred relationship	Some	1
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Finding site	Joint structure	false	Inferred relationship	Some	1
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Is a	Congenital anomaly of bone and joint	false	Inferred relationship	Some
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Is a	Inherited arthrogryposis	false	Inferred relationship	Some
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Has interpretation	Decreased	true	Inferred relationship	Some	3
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Interprets	Range of joint movement	true	Inferred relationship	Some	3
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Finding site	Structure of joint region	true	Inferred relationship	Some	1
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Finding site	Joint structure of multiple body sites (body structure)	true	Inferred relationship	Some	4
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Associated morphology	Contracture	true	Inferred relationship	Some	4

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Id	Description	Lang	Type	Status	Case?	Module
3425567013	A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
87570012	Freeman-Sheldon syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
87571011	Whistling face syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
790645014	Freeman-Sheldon syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3425566016	Distal arthrogryposis type 2A	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1441491000005119	Freeman-Sheldons syndrom	da	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Danish module (core metadata concept)