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722461004: Meacham syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3332233017 Meacham syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3332234011 Meacham syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3332235012 Meacham Winn Culler syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3332236013 A multiple malformation syndrome with characteristics of congenital diaphragmatic abnormalities, genital defects and cardiac malformations. Less than 15 patients have been reported worldwide. Ambiguous or female external genitalia are present in individuals with 46,XY karyotype. The genital abnormalities are variable and may include a true double vagina or septate vagina, absent uterus, abnormal male gonads in the presence of normal external female genitalia or male pseudohermaphroditism with abnormal internal female genitalia. Complex cyanotic congenital heart defects, (hypoplastic right lungs, anomalous pulmonary venous return and abnormalities of the diaphragm) are frequent. One patient with rhabdomyomatous dysplasia of the lungs has been reported. Mutations in the WT1 gene have been identified in some patients with Meacham syndrome. All patients reported to date died in early childhood. 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
Meacham syndrome (disorder) Is a Congenital heart disease true Inferred relationship Some
Meacham syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Meacham syndrome (disorder) Is a Congenital anomaly of diaphragm true Inferred relationship Some
Meacham syndrome (disorder) Is a Indeterminate sex and pseudohermaphroditism false Inferred relationship Some
Meacham syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 3
Meacham syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Meacham syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 4
Meacham syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Meacham syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 5
Meacham syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Meacham syndrome (disorder) Finding site Heart structure false Inferred relationship Some 5
Meacham syndrome (disorder) Finding site Diaphragm structure true Inferred relationship Some 3
Meacham syndrome (disorder) Finding site Genital structure false Inferred relationship Some 4
Meacham syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Meacham syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Meacham syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Meacham syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Meacham syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Meacham syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Meacham syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Meacham syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Meacham syndrome (disorder) Finding site Genital structure true Inferred relationship Some 2
Meacham syndrome (disorder) Finding site Heart structure true Inferred relationship Some 1
Meacham syndrome (disorder) Is a Congenital malformation of genital organs (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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