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771179007: Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
3704764011 Char Douglas Dungan syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3704765012 Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3704766013 Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3704767016 A rare genetic malformation syndrome with characteristics of microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
2171361000172115 syndrome de Char-Douglas-Dungan fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2171371000172112 "syndrome d'extrasystoles, petite taille, hyperpigmentation, microcéphalie" fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Preferred (foundation metadata concept)
2171381000172110 syndroom van Char-Douglas-Dungan nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2171391000172113 "syndroom van extrasystolen, kleine gestalte, hyperpigmentatie en microcefalie" nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) Is a Genetic disorder of skin pigmentation (disorder) false Inferred relationship Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) Is a Congenital cardiovascular disorder (disorder) true Inferred relationship Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) Finding site Brain structure false Inferred relationship Some 3
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) Is a Hereditary disorder of nervous system false Inferred relationship Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) Is a microcéphalie false Inferred relationship Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) Is a Congenital anomaly of brain false Inferred relationship Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) Is a Short stature disorder true Inferred relationship Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) Is a Ventricular premature beats true Inferred relationship Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) Is a Inherited cutaneous hyperpigmentation true Inferred relationship Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) Associated morphology Congenital smallness true Inferred relationship Some 3
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) Finding site Ventricular conducting pathway (body structure) true Inferred relationship Some 2
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) Finding site Skin structure true Inferred relationship Some 1
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) Associated morphology Hyperpigmentation true Inferred relationship Some 1
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) Interprets Height / growth measure true Inferred relationship Some 4
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) Finding site Head structure true Inferred relationship Some 3
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) Is a Congenital microcephaly (disorder) true Inferred relationship Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) Has interpretation Below reference range true Inferred relationship Some 5
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) Interprets Birth head circumference true Inferred relationship Some 5
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) Has interpretation Below reference range true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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