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722461004: syndrome de Meacham (trouble)


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
1021271000172112 syndrome de Meacham fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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
758791000241119 syndrome de Meacham (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
957101000172112 syndrome de Meacham-Winn-Culler fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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
syndrome de Meacham morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
syndrome de Meacham morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 3
syndrome de Meacham Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
syndrome de Meacham Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
syndrome de Meacham Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
syndrome de Meacham survenue (attribut) congénital true Inferred relationship Some 1
syndrome de Meacham survenue (attribut) congénital true Inferred relationship Some 2
syndrome de Meacham morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
syndrome de Meacham localisation d'une constatation (attribut) Genital structure true Inferred relationship Some 2
syndrome de Meacham localisation d'une constatation (attribut) cœur true Inferred relationship Some 1
syndrome de Meacham est un(e) (attribut) Congenital malformation of genital organs true Inferred relationship Some
syndrome de Meacham est un(e) (attribut) maladie cardiaque congénitale true Inferred relationship Some
syndrome de Meacham est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
syndrome de Meacham est un(e) (attribut) Congenital anomaly of diaphragm true Inferred relationship Some
syndrome de Meacham est un(e) (attribut) Indeterminate sex and pseudohermaphroditism false Inferred relationship Some
syndrome de Meacham morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 3
syndrome de Meacham survenue (attribut) congénital true Inferred relationship Some 3
syndrome de Meacham morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 4
syndrome de Meacham survenue (attribut) congénital false Inferred relationship Some 4
syndrome de Meacham morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 5
syndrome de Meacham survenue (attribut) congénital false Inferred relationship Some 5
syndrome de Meacham localisation d'une constatation (attribut) cœur false Inferred relationship Some 5
syndrome de Meacham localisation d'une constatation (attribut) diaphragme (structure corporelle) true Inferred relationship Some 3
syndrome de Meacham localisation d'une constatation (attribut) Genital structure false Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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