700211007: ulnair-mammair syndroom (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Ulnar mammary syndrome

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 12\Ulnar mammary syndrome

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 12\Ulnar mammary syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2989585014 Ulnar mammary syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2989606017 Ulnar mammary syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2989640017 Ulnar-mammary syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2989657018 Schinzel syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

6395271000146112 ulnair-mammair syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6395281000146114 'ulnary-mammary'-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6395291000146111 UMS nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6395301000146110 ulnair-mammair syndroom (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6395311000146112 syndroom van Schinzel nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6395321000146119 Schinzel-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

2989692014 An extremely rare inherited disorder characterized by malformations of the ulnar ray, hypoplasia and dysfunction of the axillary apocrine and mammary glands, endocrine dysfunction, dental anomalies, and occasional visceral malformations. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3776280014 An extremely rare inherited disorder characterised by malformations of the ulnar ray, hypoplasia and dysfunction of the axillary apocrine and mammary glands, endocrine dysfunction, dental anomalies, and occasional visceral malformations. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ulnar mammary syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Ulnar mammary syndrome	Is a	Anomaly of chromosome pair 12	true	Inferred relationship	Some
Ulnar mammary syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Ulnar mammary syndrome	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Some	1
Ulnar mammary syndrome	Finding site	Chromosome pair 12	true	Inferred relationship	Some	1

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This concept is not in any reference sets