1255322002: Congenital contracture of limbs and face, hypotonia, developmental delay syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Deformity (finding)\Deformity of limb (finding)\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Deformity (finding)\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Deformity (finding)\Congenital deformity\Congenital deformity of face (disorder)\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Deformity (finding)\Congenital deformity\Arthrogryposis\Distal arthrogryposis syndrome\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Deformity (finding)\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\Distal arthrogryposis syndrome\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Distal arthrogryposis syndrome\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Lesion of face\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \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\Multiple malformation syndrome with facial-limb defects as major feature\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Lesion of face\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \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\Multiple malformation syndrome with facial-limb defects as major feature\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \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\Multiple malformation syndrome with facial-limb defects as major feature\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Finding of limb structure\Deformity of limb (finding)\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Finding of movement (finding)\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Distal arthrogryposis syndrome\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Finding of movement (finding)\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Distal arthrogryposis syndrome\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \General finding of soft tissue\Poor muscle tone (finding)\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Muscle finding\Finding of muscle tone (finding)\Poor muscle tone (finding)\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Musculoskeletal finding\Poor muscle tone (finding)\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Distal arthrogryposis syndrome\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Distal arthrogryposis syndrome\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Musculoskeletal finding\Joint finding\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\Distal arthrogryposis syndrome\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Distal arthrogryposis syndrome\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Distal arthrogryposis syndrome\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Disease\Disorder of joint region\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Distal arthrogryposis syndrome\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Disease\Disorder of joint region\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Distal arthrogryposis syndrome\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Distal arthrogryposis syndrome\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Congenital deformity of face (disorder)\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Arthrogryposis\Distal arthrogryposis syndrome\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Distal arthrogryposis syndrome\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Distal arthrogryposis syndrome\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Lesion of face\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Distal arthrogryposis syndrome\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital deformity\Congenital deformity of face (disorder)\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Distal arthrogryposis syndrome\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\Congenital contracture of limbs and face, hypotonia, developmental delay syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5146460014	Congenital contracture of limbs and face, hypotonia, developmental delay syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5146461013	CLIFAHDD syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5146462018	Congenital contracture of limbs and face, hypotonia, developmental delay syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5146463011	CLIFAHDD (congenital limbs, face contractures, hypotonia, developmental delay) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400376013	A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face, hypotonia, neonatal respiratory distress, and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures, broad nasal bridge, large nares, long philtrum, and deep nasolabial folds, among others. Limb deformities (camptodactyly, clubfoot), short neck, scoliosis, as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400377016	A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterised by severe congenital contractures of the limbs and face, hypotonia, neonatal respiratory distress, and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures, broad nasal bridge, large nares, long philtrum, and deep nasolabial folds, among others. Limb deformities (camptodactyly, clubfoot), short neck, scoliosis, as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start