FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.10  |  FHIR Version n/a  User: [n/a]

1187039001: Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome (disorder)


Status: current, Primitive. Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4669013015 Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
4669014014 Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome en Synonym Active Case insensitive SNOMED CT core
4669015010 Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, deafness syndrome en Synonym Active Case insensitive SNOMED CT core
4669016011 Hyaluronidase 2 deficiency en Synonym Active Case insensitive SNOMED CT core
4669023012 A rare genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability with characteristics of unilateral or bilateral cleft lip and palate and craniofacial dysmorphism (including frontal bossing, hypertelorism, broad flat nasal bridge, cupped ears/thickened helices and micrognathia). Additional manifestations are variable congenital cardiac anomalies, pectus excavatum, abnormalities of the hands and feet, ocular abnormalities (myopia, cataract, staphyloma) and conductive or sensorineural hearing loss. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome Is a Cleft palate with cleft lip true Inferred relationship Some
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome Is a Genetic disease true Inferred relationship Some
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome Occurrence Congenital true Inferred relationship Some 1
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome Finding site Lip structure true Inferred relationship Some 1
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome Associated morphology Developmental failure of fusion true Inferred relationship Some 1
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome Occurrence Congenital true Inferred relationship Some 2
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome Finding site Palatal structure true Inferred relationship Some 2
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome Associated morphology Developmental failure of fusion true Inferred relationship Some 2
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome Pathological process Pathological developmental process true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start