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763631006: syndroom van kleine gestalte, ossa suturalia en dextrocardie (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3643102014 Short stature, wormian bones, dextrocardia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643103016 Short stature, wormian bones, dextrocardia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643104010 Stratton Parker syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
6728181000146119 Stratton-Parker-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6728191000146117 syndroom van Stratton-Parker nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6728201000146115 syndroom van kleine gestalte, ossa suturalia en dextrocardie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6728211000146118 syndroom van kleine gestalte, ossa suturalia en dextrocardie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6728231000146113 syndroom van kleine lengte, naadbeenderen en dextrocardie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8674461000146111 syndroom van kleine gestalte, ossa suturarum en dextrocardie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3643101019 A multiple congenital anomalies syndrome with characteristics of wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymmetry, mild developmental delay, hemimegalencephaly and facial dysmorphism, such as hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge and microstomia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Short stature, wormian bones, dextrocardia syndrome Due to Growth hormone deficiency (disorder) true Inferred relationship Some 2
Short stature, wormian bones, dextrocardia syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Short stature, wormian bones, dextrocardia syndrome Is a Short stature disorder true Inferred relationship Some
Short stature, wormian bones, dextrocardia syndrome Occurrence Congenital true Inferred relationship Some 1
Short stature, wormian bones, dextrocardia syndrome Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 1
Short stature, wormian bones, dextrocardia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Short stature, wormian bones, dextrocardia syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Short stature, wormian bones, dextrocardia syndrome Interprets Height / growth measure true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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