1303834006: Abnormal smallness (morphologic abnormality)

SNOMED CT Concept\Body structure (body structure)\Morphologically altered structure\Morphologically abnormal structure\Growth alteration\Abnormal smallness (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5308066018 Abnormal smallness (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5308067010 Abnormal smallness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Abnormal smallness (morphologic abnormality)	Is a	Growth alteration	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Small epiphysis of metacarpal	Associated morphology	True	Abnormal smallness (morphologic abnormality)	Inferred relationship	Some	1
Small epiphysis of phalanx of great toe	Associated morphology	True	Abnormal smallness (morphologic abnormality)	Inferred relationship	Some	1
Small epiphysis of phalanx of index finger	Associated morphology	True	Abnormal smallness (morphologic abnormality)	Inferred relationship	Some	1
Small epiphysis	Associated morphology	True	Abnormal smallness (morphologic abnormality)	Inferred relationship	Some	1
Small epiphysis of phalanx of hand	Associated morphology	True	Abnormal smallness (morphologic abnormality)	Inferred relationship	Some	1
Small epiphysis of phalanx of ring finger	Associated morphology	True	Abnormal smallness (morphologic abnormality)	Inferred relationship	Some	1
Small epiphysis of phalanx of third toe	Associated morphology	True	Abnormal smallness (morphologic abnormality)	Inferred relationship	Some	1
Small epiphysis of phalanx of middle finger	Associated morphology	True	Abnormal smallness (morphologic abnormality)	Inferred relationship	Some	1
Small epiphysis of phalanx of little finger	Associated morphology	True	Abnormal smallness (morphologic abnormality)	Inferred relationship	Some	1
Small epiphysis of proximal phalanx of hand	Associated morphology	True	Abnormal smallness (morphologic abnormality)	Inferred relationship	Some	1
Small epiphysis of phalanx of toe	Associated morphology	True	Abnormal smallness (morphologic abnormality)	Inferred relationship	Some	1
Small epiphysis of phalanx of second toe	Associated morphology	True	Abnormal smallness (morphologic abnormality)	Inferred relationship	Some	1
A rare type of Ehlers-Danlos syndrome characterised by connective tissue defects (joint laxity of finger joints and knees, small joint hypermotility and tissue fragility), vascular complications (atrioventricular defect, symptomatic cerebral aneurysm, vascular dissection) and frontoparietally accentuated polymicrogyria of the cobblestone variant. Specific brain anomalies (including cerebrocortical dysplasia, cerebellar microcysts and white matter anomalies) are present in all patients. Most of the affected individuals have developmental delay and may develop epilepsy. Additional clinical features include spontaneous intracranial hypotension, idiopathic intracranial hypertension, headache, chronic pain syndrome, peripheral neuropathy, plexopathy, translucent skin and clubfoot. Dysmorphic features such as eye anomalies (strabismus, bilateral hyperopia, esotropia, proptosis), pinched nose, thin upper lip, crowded teeth and retrognathia are also reported.	Associated morphology	True	Abnormal smallness (morphologic abnormality)	Inferred relationship	Some	1

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This concept is not in any reference sets