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77701002: polymalformatief syndroom van matig kleine gestalte en aangezichtsmalformatie (aandoening)

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
128959018 Multiple malformation syndrome, moderate short stature, facial en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
128960011 Multiple malformation syndrome, moderate short stature, facial with or without genital features, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
128961010 Multiple malformation syndrome, moderate short stature, facial with or without genital features en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
818561014 Multiple malformation syndrome, moderate short stature, facial (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
8464901000146113 polymalformatief syndroom van matig kleine gestalte en aangezichtsmalformatie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8464911000146110 polymalformatief syndroom van matig kleine gestalte en aangezichtsmalformatie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8464921000146117 polymalformatief syndroom van matig kleine gestalte, faciale afwijking, met of zonder genitale kenmerken nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8464931000146115 syndroom van multipele malformaties van matig kleine lengte en afwijking van aangezicht nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Multiple malformation syndrome, moderate short stature, facial Is a Multiple system malformation syndrome true Inferred relationship Some
Multiple malformation syndrome, moderate short stature, facial Occurrence Congenital false Inferred relationship Some
Multiple malformation syndrome, moderate short stature, facial Associated morphology Congenital malformation false Inferred relationship Some
Multiple malformation syndrome, moderate short stature, facial Occurrence Congenital true Inferred relationship Some 1
Multiple malformation syndrome, moderate short stature, facial Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 1
Multiple malformation syndrome, moderate short stature, facial Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Multiple malformation syndrome, moderate short stature, facial Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Brachycephalic dwarfism Is a False Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Aarskog syndrome Is a True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Dolichocephalic dwarfism Is a True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Smith-Lemli-Opitz syndrome Is a True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Williams syndrome Is a False Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Robinow syndrome Is a False Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Opitz-Frias syndrome Is a True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Noonan syndrome Is a False Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Bovine achondroplasia Is a False Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Noonan's syndrome Is a True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) Is a True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Short stature with valvular heart disease and characteristic facies syndrome (disorder) Is a True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Robinow-like syndrome Is a False Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Noonan syndrome-like disorder with loose anagen hair (disorder) Is a True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some

This concept is not in any reference sets

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