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41483000: Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
69194019 Multiple malformation syndrome, small stature, without skeletal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
778276018 Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
69194019 Multiple malformation syndrome, small stature, without skeletal dysplasia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
69194019 Multiple malformation syndrome, small stature, without skeletal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
778276018 Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
778276018 Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4525481000241114 syndrome d'anomalies congénitales multiples avec retard statural, sans dysplasie squelettique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4525481000241114 syndrome d'anomalies congénitales multiples avec retard statural, sans dysplasie squelettique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

8 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder) Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder) Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder) Is a Congenital malformation syndromes associated with short stature true Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder) Interprets Height / growth measure (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group
DeSanctis-Cacchione syndrome Is a False Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Russell-Silver syndrome Is a True Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Dubowitz's syndrome (disorder) Is a True Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
De Lange syndrome Is a True Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Bloom syndrome Is a True Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Rubinstein-Taybi syndrome Is a True Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Seckel syndrome Is a False Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hallermann-Streiff syndrome (disorder) Is a True Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Warsaw breakage syndrome (disorder) Is a True Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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