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723720008: Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3425685011 Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3425686012 Sex reversion, kidney, adrenal and lung dysgenesis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3425687015 SERKAL syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3780965012 SERKAL (sex reversion, kidney, adrenal and lung dysgenesis) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3425689017 Syndrome that has characteristics of female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. The syndrome is lethal and has been described in three fetuses. It is caused by homozygous missense mutations in the WNT4 gene. It is transmitted as an autosomal recessive trait. 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
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 3
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 4
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) localisation d'une constatation (attribut) Gonadal structure true Inferred relationship Some 2
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) localisation d'une constatation (attribut) glande suprarénale true Inferred relationship Some 1
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) localisation d'une constatation (attribut) structure d'un poumon true Inferred relationship Some 3
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) est un(e) (attribut) anomalie congénitale des reins true Inferred relationship Some
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) est un(e) (attribut) anomalie congénitale du poumon true Inferred relationship Some
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) est un(e) (attribut) Congenital anomaly of adrenal gland true Inferred relationship Some
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) est un(e) (attribut) Gonadal dysgenesis true Inferred relationship Some
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) est un(e) (attribut) Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) est un(e) (attribut) Reproductive system hereditary disorder true Inferred relationship Some
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) est un(e) (attribut) Hereditary nephropathy (disorder) true Inferred relationship Some
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 4
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 5
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 6
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 7
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 7
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) localisation d'une constatation (attribut) structure d'un rein true Inferred relationship Some 4
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) localisation d'une constatation (attribut) structure d'un poumon false Inferred relationship Some 4
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) localisation d'une constatation (attribut) glande suprarénale false Inferred relationship Some 7
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) localisation d'une constatation (attribut) Gonadal structure false Inferred relationship Some 5
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) localisation d'une constatation (attribut) structure d'un rein false Inferred relationship Some 6

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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