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


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Nov 2021. Module: SNOMED CT core module

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 Entire term case insensitive SNOMED CT core module
4669014014 Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
4669015010 Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, deafness syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
4669016011 Hyaluronidase 2 deficiency en Synonym Active Entire term case insensitive SNOMED CT core module


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 Existential restriction modifier
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome Is a Cleft palate with cleft lip true Inferred relationship Existential restriction modifier
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome Is a Genetic disease true Inferred relationship Existential restriction modifier
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome Finding site Lip structure true Inferred relationship Existential restriction modifier 1
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome Associated morphology Developmental failure of fusion true Inferred relationship Existential restriction modifier 1
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome Finding site Palatal structure true Inferred relationship Existential restriction modifier 2
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome Associated morphology Developmental failure of fusion true Inferred relationship Existential restriction modifier 2
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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