FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

722461004: Meacham-syndroom (aandoening)


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
6672491000146118 syndroom van dubbele vagina en cardiale, pulmonaire en andere genitale malformaties met 46,XY-karyotype nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6672501000146111 syndroom van Meacham-Winn-Culler nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6672511000146113 Meacham-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6672521000146115 syndroom van Meacham nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6672531000146118 Meacham-Winn-Culler-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
10670091000146117 Meacham-syndroom (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained 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
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 gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 3
Meacham syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Meacham syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 4
Meacham syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Meacham syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) 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

Back to Start