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


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3425686012 Sex reversion, kidney, adrenal and lung dysgenesis syndrome en Synonym Active Case insensitive SNOMED CT core
3425687015 SERKAL syndrome en Synonym Active Case sensitive SNOMED CT core
3780965012 SERKAL (sex reversion, kidney, adrenal and lung dysgenesis) syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
SERKAL syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
SERKAL syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 3
SERKAL syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
SERKAL syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
SERKAL syndrome Pathological process Pathological developmental process true Inferred relationship Some 4
SERKAL syndrome Occurrence Congenital true Inferred relationship Some 3
SERKAL syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 4
SERKAL syndrome Occurrence Congenital true Inferred relationship Some 1
SERKAL syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
SERKAL syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
SERKAL syndrome Occurrence Congenital true Inferred relationship Some 2
SERKAL syndrome Finding site Gonadal structure true Inferred relationship Some 2
SERKAL syndrome Finding site Adrenal structure true Inferred relationship Some 1
SERKAL syndrome Finding site Lung structure true Inferred relationship Some 3
SERKAL syndrome Is a Developmental hereditary disorder true Inferred relationship Some
SERKAL syndrome Is a Congenital anomaly of the kidney true Inferred relationship Some
SERKAL syndrome Is a Congenital anomaly of lung true Inferred relationship Some
SERKAL syndrome Is a Congenital anomaly of adrenal gland true Inferred relationship Some
SERKAL syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
SERKAL syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
SERKAL syndrome Is a Gonadal dysgenesis true Inferred relationship Some
SERKAL syndrome Is a Hereditary disorder of endocrine system true Inferred relationship Some
SERKAL syndrome Is a Reproductive system hereditary disorder true Inferred relationship Some
SERKAL syndrome Is a Hereditary nephropathy true Inferred relationship Some
SERKAL syndrome Associated morphology Developmental abnormality false Inferred relationship Some 4
SERKAL syndrome Occurrence Congenital true Inferred relationship Some 4
SERKAL syndrome Associated morphology Developmental abnormality false Inferred relationship Some 5
SERKAL syndrome Occurrence Congenital false Inferred relationship Some 5
SERKAL syndrome Associated morphology Developmental abnormality false Inferred relationship Some 6
SERKAL syndrome Occurrence Congenital false Inferred relationship Some 6
SERKAL syndrome Associated morphology Developmental abnormality false Inferred relationship Some 7
SERKAL syndrome Occurrence Congenital false Inferred relationship Some 7
SERKAL syndrome Finding site Kidney structure true Inferred relationship Some 4
SERKAL syndrome Finding site Lung structure false Inferred relationship Some 4
SERKAL syndrome Finding site Adrenal structure false Inferred relationship Some 7
SERKAL syndrome Finding site Gonadal structure false Inferred relationship Some 5
SERKAL syndrome Finding site Kidney structure false Inferred relationship Some 6

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Respiratory finding reference set

Problem/Diagnosis reference set

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