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\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Craniomicromelic syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniomicromelic syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniomicromelic syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Craniomicromelic syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniomicromelic syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniomicromelic syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\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 malformation\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 malformation\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 malformation\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 malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Craniomicromelic syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniomicromelic syndrome
\Disease\Congenital disease\Congenital malformation\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 malformation\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 malformation\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 malformation\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 malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Craniomicromelic syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniomicromelic syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Craniomicromelic syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3438517014 Craniomicromelic syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3438518016 Craniomicromelic syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3438517014	Craniomicromelic syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3438518016	Craniomicromelic syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module