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43929004: Smith-Lemli-Opitz syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
73253014 Smith-Lemli-Opitz syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
493717019 7-Dehydrocholesterol reductase deficiency en Synonym Active Entire term case sensitive SNOMED CT core module
780998012 Smith-Lemli-Opitz syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Smith-Lemli-Opitz syndrome Is a Multiple malformation syndrome, moderate short stature, facial true Inferred relationship Existential restriction modifier
Smith-Lemli-Opitz syndrome Is a Disorder of cholesterol synthesis true Inferred relationship Existential restriction modifier
Smith-Lemli-Opitz syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier
Smith-Lemli-Opitz syndrome Finding site Body system structure false Inferred relationship Existential restriction modifier
Smith-Lemli-Opitz syndrome Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier
Smith-Lemli-Opitz syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Smith-Lemli-Opitz syndrome Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 1
Smith-Lemli-Opitz syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
Smith-Lemli-Opitz syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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