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716248001: Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder)


Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3305231014 Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3305232019 Cleft lip and cleft palate with ectodermal dysplasia syndrome en Synonym Active Case insensitive SNOMED CT core
3305233012 Zlotogora Ogur syndrome en Synonym Active Case sensitive SNOMED CT core
3305234018 Cleft lip and palate with syndactyly and pili torti en Synonym Active Case insensitive SNOMED CT core
3305235017 Zlotogora Zilberman Tenenbaum syndrome en Synonym Active Case sensitive SNOMED CT core
3305236016 Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome with characteristics of hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.The prevalence is unknown but to date, less than 50 cases have been described in the literature. Caused by mutations in the gene PVRL1 (11q23-q24) which encodes nectin-1, the principal receptor used by alpha-herpesviruses to mediate entry into human cells. Transmission is autosomal recessive. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Zlotogora Ogur syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Zlotogora Ogur syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Zlotogora Ogur syndrome Associated morphology Developmental failure of fusion true Inferred relationship Some 3
Zlotogora Ogur syndrome Pathological process Pathological developmental process true Inferred relationship Some 4
Zlotogora Ogur syndrome Finding site Palatal structure true Inferred relationship Some 3
Zlotogora Ogur syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Zlotogora Ogur syndrome Occurrence Congenital true Inferred relationship Some 3
Zlotogora Ogur syndrome Associated morphology Developmental failure of fusion true Inferred relationship Some 4
Zlotogora Ogur syndrome Finding site Skin structure true Inferred relationship Some 2
Zlotogora Ogur syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Zlotogora Ogur syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 1
Zlotogora Ogur syndrome Finding site Ectoderm structure true Inferred relationship Some 1
Zlotogora Ogur syndrome Associated morphology Dysplasia true Inferred relationship Some 1
Zlotogora Ogur syndrome Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
Zlotogora Ogur syndrome Associated morphology Developmental failure of fusion false Inferred relationship Some 5
Zlotogora Ogur syndrome Pathological process Pathological developmental process false Inferred relationship Some 5
Zlotogora Ogur syndrome Finding site Bone structure of head false Inferred relationship Some 5
Zlotogora Ogur syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Zlotogora Ogur syndrome Is a Ectodermal dysplasia true Inferred relationship Some
Zlotogora Ogur syndrome Is a Cleft palate with cleft lip true Inferred relationship Some
Zlotogora Ogur syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Zlotogora Ogur syndrome Is a Congenital anomaly of palate false Inferred relationship Some
Zlotogora Ogur syndrome Is a Digestive system hereditary disorder true Inferred relationship Some
Zlotogora Ogur syndrome Is a Hereditary disorder of the integument true Inferred relationship Some
Zlotogora Ogur syndrome Occurrence Congenital true Inferred relationship Some 4
Zlotogora Ogur syndrome Occurrence Congenital false Inferred relationship Some 5
Zlotogora Ogur syndrome Associated morphology Congenital failure of fusion false Inferred relationship Some 6
Zlotogora Ogur syndrome Occurrence Congenital false Inferred relationship Some 6
Zlotogora Ogur syndrome Finding site Lip structure false Inferred relationship Some 6
Zlotogora Ogur syndrome Occurrence Congenital false Inferred relationship Some 7
Zlotogora Ogur syndrome Associated morphology Developmental abnormality false Inferred relationship Some 4
Zlotogora Ogur syndrome Finding site Skin structure false Inferred relationship Some 4
Zlotogora Ogur syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 5
Zlotogora Ogur syndrome Finding site Ectoderm structure false Inferred relationship Some 5
Zlotogora Ogur syndrome Associated morphology Congenital failure of fusion false Inferred relationship Some 7
Zlotogora Ogur syndrome Finding site Palatal structure false Inferred relationship Some 7
Zlotogora Ogur syndrome Finding site Lip structure true Inferred relationship Some 4
Zlotogora Ogur syndrome Associated morphology Developmental failure of fusion false Inferred relationship Some 1
Zlotogora Ogur syndrome Occurrence Congenital true Inferred relationship Some 1
Zlotogora Ogur syndrome Associated morphology Developmental failure of fusion false Inferred relationship Some 2
Zlotogora Ogur syndrome Occurrence Congenital true Inferred relationship Some 2
Zlotogora Ogur syndrome Finding site Lip structure false Inferred relationship Some 1
Zlotogora Ogur syndrome Finding site Palatal structure false Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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