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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
3704764011 Char Douglas Dungan syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3704765012 Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3704766013 Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
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
3704764011 Char Douglas Dungan syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3704765012 Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3704766013 Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
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
3417911001000110 Extrasystolen-Kleinwuchs-Hyperpigmentierung-Mikrozephalie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1013341000241111 syndrome d'extrasystoles, petite taille, hyperpigmentation, microcéphalie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1013341000241111 syndrome d'extrasystoles, petite taille, hyperpigmentation, microcéphalie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3417911001000110 Extrasystolen-Kleinwuchs-Hyperpigmentierung-Mikrozephalie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Is a Genetic disorder of skin pigmentation (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Is a Congenital cardiovascular disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Finding site Brain structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Is a Hereditary disorder of nervous system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Is a microcéphalie false Inferred relationship Existential restriction modifier (core metadata concept)
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Is a Congenital anomaly of brain false Inferred relationship Existential restriction modifier (core metadata concept)
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Is a Short stature disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Is a extrasystoles ventriculaires false Inferred relationship Existential restriction modifier (core metadata concept)
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Is a Inherited cutaneous hyperpigmentation true Inferred relationship Existential restriction modifier (core metadata concept)
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 3
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Finding site Structure of ventricular conducting pathway (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Associated morphology Hyperpigmentation (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Interprets Height / growth measure (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Finding site Head structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Is a Congenital microcephaly (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 5
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Interprets Birth head circumference true Inferred relationship Existential restriction modifier (core metadata concept) 5
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 4
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 7
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 7
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Is a Multiple premature ventricular complexes true Inferred relationship Existential restriction modifier (core metadata concept)
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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