725098001: Craniomicromelic syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Craniomicromelic syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniomicromelic syndrome

\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Craniomicromelic syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniomicromelic syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniomicromelic syndrome
\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Craniomicromelic syndrome

\Musculoskeletal finding\Joint finding\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniomicromelic syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniomicromelic syndrome
\Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Craniomicromelic syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Craniomicromelic syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniomicromelic syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniomicromelic syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniomicromelic syndrome

\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniomicromelic syndrome
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniomicromelic syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Craniomicromelic syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Craniomicromelic syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Craniomicromelic syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Craniomicromelic syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Craniomicromelic syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniomicromelic syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniomicromelic syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniomicromelic syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Craniomicromelic syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniomicromelic syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniomicromelic syndrome
\Disease\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Craniomicromelic syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniomicromelic syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniomicromelic syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniomicromelic syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Craniomicromelic syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniomicromelic syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Craniomicromelic syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Craniomicromelic syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniomicromelic syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniomicromelic syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniomicromelic syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Craniomicromelic syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniomicromelic syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Craniomicromelic syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3438517014 Craniomicromelic syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3438518016 Craniomicromelic syndrome en Synonym Active Case insensitive SNOMED CT core

3438519012 A very rare disorder with characteristics of intrauterine growth retardation, under-ossification of the skull with large fontanelles, short limbs with absent phalanges and finger and toe syndactyly. Only 4 cases have been reported in the literature in 3 unrelated families. Dysmorphic features include narrow face with small palpebral fissures, small pointed nose, microstomia, micrognathia and low-set and posteriorly rotated ears. A posterior encephalocele and other congenital malformations can be observed. Prognosis is poor. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Craniomicromelic syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Craniomicromelic syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Craniomicromelic syndrome	Finding site	Limb structure	true	Inferred relationship	Some	2
Craniomicromelic syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Craniomicromelic syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Craniomicromelic syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Craniomicromelic syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Craniomicromelic syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Craniomicromelic syndrome	Finding site	Joint structure of suture of skull	true	Inferred relationship	Some	1
Craniomicromelic syndrome	Associated morphology	Congenital premature fusion	true	Inferred relationship	Some	1
Craniomicromelic syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Craniomicromelic syndrome	Finding site	Face structure	true	Inferred relationship	Some	3
Craniomicromelic syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Craniomicromelic syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Craniomicromelic syndrome	Is a	Craniosynostosis syndrome	true	Inferred relationship	Some
Craniomicromelic syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Craniomicromelic syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Craniomicromelic syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Craniomicromelic syndrome	Finding site	Bone structure of cranium	false	Inferred relationship	Some
Craniomicromelic syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
Craniomicromelic syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Craniomicromelic syndrome	Finding site	Limb structure	false	Inferred relationship	Some	4
Craniomicromelic syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Craniomicromelic syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Craniomicromelic syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	6
Craniomicromelic syndrome	Finding site	Face structure	false	Inferred relationship	Some	6
Craniomicromelic syndrome	Associated morphology	Congenital premature fusion	false	Inferred relationship	Some	5
Craniomicromelic syndrome	Finding site	Joint structure of suture of skull	false	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3438517014	Craniomicromelic syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3438518016	Craniomicromelic syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3438519012	A very rare disorder with characteristics of intrauterine growth retardation, under-ossification of the skull with large fontanelles, short limbs with absent phalanges and finger and toe syndactyly. Only 4 cases have been reported in the literature in 3 unrelated families. Dysmorphic features include narrow face with small palpebral fissures, small pointed nose, microstomia, micrognathia and low-set and posteriorly rotated ears. A posterior encephalocele and other congenital malformations can be observed. Prognosis is poor.	en	Definition	Active	Case sensitive	SNOMED CT core