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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
5403148012 SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterized by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403149016 SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
3425688013 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
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
5403148012 SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterized by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403149016 SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3414071001000114 SERKAL-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5485841000241113 réversion sexuelle, syndrome de dysgénésie rénale, pulmonaire et surrénale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5485841000241113 réversion sexuelle, syndrome de dysgénésie rénale, pulmonaire et surrénale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3414071001000114 SERKAL-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
SERKAL syndrome Is a Congenital anomaly of the kidney true Inferred relationship Existential restriction modifier (core metadata concept)
SERKAL syndrome Is a Congenital anomaly of lung true Inferred relationship Existential restriction modifier (core metadata concept)
SERKAL syndrome Is a Congenital anomaly of adrenal gland true Inferred relationship Existential restriction modifier (core metadata concept)
SERKAL syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
SERKAL syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
SERKAL syndrome Is a Gonadal dysgenesis true Inferred relationship Existential restriction modifier (core metadata concept)
SERKAL syndrome Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
SERKAL syndrome Is a Reproductive system hereditary disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
SERKAL syndrome Is a Hereditary nephropathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
SERKAL syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 4
SERKAL syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
SERKAL syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 5
SERKAL syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
SERKAL syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 6
SERKAL syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
SERKAL syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 7
SERKAL syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 7
SERKAL syndrome Finding site Kidney structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
SERKAL syndrome Finding site Lung structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
SERKAL syndrome Finding site Adrenal structure false Inferred relationship Existential restriction modifier (core metadata concept) 7
SERKAL syndrome Finding site Gonadal structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
SERKAL syndrome Finding site Kidney structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
SERKAL syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
SERKAL syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
SERKAL syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
SERKAL syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
SERKAL syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
SERKAL syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
SERKAL syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
SERKAL syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
SERKAL syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
SERKAL syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
SERKAL syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
SERKAL syndrome Finding site Gonadal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
SERKAL syndrome Finding site Adrenal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
SERKAL syndrome Finding site Lung structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
SERKAL syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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