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418560003: Absence (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2006. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2573418018 Absence (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2576693013 Absence en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
8681000077116 absence fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

17 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Absence (morphologic abnormality) Is a Morphologically abnormal structure true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations). Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations). Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 3
Absence of eyelashes Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Absence of eyelashes of inner corner of eyelid (finding) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Absence of eyelashes of upper eyelid (finding) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Absence of eyelashes of lower eyelid (finding) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Absence of hair of axilla (finding) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Absence of facial hair Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Absence of pubic hair Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of nail unit of little finger (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of nail unit of digit of hand (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of coccyx bone Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of nail unit of thumb (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of myelination of peripheral nerve (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital aganglionosis of small intestine Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Congenital absence of bilateral external ears Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of bilateral external ears Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Congenital absence of left external ear (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of right external ear (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of external ear Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Schöpf-Schulz-Passarge syndrome Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 8
Agenesis of pulmonary trunk (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of pulmonary trunk (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of pulmonary artery Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Acquired absence of pulmonary trunk (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Acquired absence of pulmonary artery Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1

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