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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
5402958019 Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402959010 Meacham syndrome is a multiple malformation syndrome characterised by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
5402958019 Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402959010 Meacham syndrome is a multiple malformation syndrome characterised by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3439201001000115 Meacham-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
957101000172112 syndrome de Meacham-Winn-Culler fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1021271000172112 syndrome de Meacham fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
957101000172112 syndrome de Meacham-Winn-Culler fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1021271000172112 syndrome de Meacham fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3439201001000115 Meacham-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
Meacham syndrome (disorder) Is a Congenital heart disease (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Meacham syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Meacham syndrome (disorder) Is a Congenital anomaly of diaphragm true Inferred relationship Existential restriction modifier (core metadata concept)
Meacham syndrome (disorder) Is a Indeterminate sex and pseudohermaphroditism false Inferred relationship Existential restriction modifier (core metadata concept)
Meacham syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
Meacham syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Meacham syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 4
Meacham syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Meacham syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 5
Meacham syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Meacham syndrome (disorder) Finding site Heart structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Meacham syndrome (disorder) Finding site Diaphragm structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Meacham syndrome (disorder) Finding site Genital structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Meacham syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Meacham syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Meacham syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Meacham syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Meacham syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Meacham syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Meacham syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Meacham syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Meacham syndrome (disorder) Finding site Genital structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Meacham syndrome (disorder) Finding site Heart structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Meacham syndrome (disorder) Is a Congenital malformation of genital organs 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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