FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

47535005: Coloboma, heart defects, choanal atresia, retardation of growth and development, genitourinary problems, ear abnormalities syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5454085017 CHARGE syndrome is a multiple congenital anomaly syndrome characterised by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5454086016 CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
79242013 CHARGE association en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1230481016 Coloboma, congenital heart disease, choanal atresia, growth retardation, genital hypoplasia, ear and hearing anomaly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2914551016 Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5036205018 Coloboma, heart defects, choanal atresia, retardation of growth and development, genitourinary problems, ear abnormalities syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5036206017 Coloboma, heart defects, choanal atresia, retardation of growth and development, genitourinary problems, ear abnormalities syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5036207014 CHARGE syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5036208016 CHARGE (coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5036209012 Hall Hittner syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
70401000077117 syndrome CHARGE fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3428221001000118 CHARGE-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
CHARGE syndrome is a multiple congenital anomaly syndrome characterised by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's). Is a Multisystem disorder C-D false Inferred relationship Some
CHARGE syndrome is a multiple congenital anomaly syndrome characterised by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's). Is a Malformation association false Inferred relationship Some
CHARGE syndrome is a multiple congenital anomaly syndrome characterised by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's). Occurrence Congenital false Inferred relationship Some
CHARGE syndrome is a multiple congenital anomaly syndrome characterised by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's). Is a trouble multisytémique false Inferred relationship Some
CHARGE syndrome is a multiple congenital anomaly syndrome characterised by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's). Associated morphology Congenital malformation false Inferred relationship Some
CHARGE syndrome is a multiple congenital anomaly syndrome characterised by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's). Occurrence Congenital true Inferred relationship Some 1
CHARGE syndrome is a multiple congenital anomaly syndrome characterised by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's). Associated morphology anomalie du développement false Inferred relationship Some 1
CHARGE syndrome is a multiple congenital anomaly syndrome characterised by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's). Is a Multiple system malformation syndrome true Inferred relationship Some
CHARGE syndrome is a multiple congenital anomaly syndrome characterised by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's). Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
CHARGE syndrome is a multiple congenital anomaly syndrome characterised by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's). Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
CHARGE syndrome is a multiple congenital anomaly syndrome characterised by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's). Is a Genetic disease true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start