FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
3305232019 Cleft lip and cleft palate with ectodermal dysplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3305233012 Zlotogora Ogur syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3305234018 Cleft lip and palate with syndactyly and pili torti en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3305235017 Zlotogora Zilberman Tenenbaum syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401285015 Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401286019 Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterised by hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3305231014 Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3305231014 Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3305232019 Cleft lip and cleft palate with ectodermal dysplasia syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3305232019 Cleft lip and cleft palate with ectodermal dysplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3305233012 Zlotogora Ogur syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3305234018 Cleft lip and palate with syndactyly and pili torti en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3305234018 Cleft lip and palate with syndactyly and pili torti en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3305235017 Zlotogora Zilberman Tenenbaum syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5401285015 Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401286019 Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterised by hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3395441001000115 Lippen-Kiefer-Gaumen-Spalte-ektodermale Dysplasie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5865571000241112 syndromes de fentes labiale et palatine avec dysplasie ectodermique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5865581000241114 syndrome de fente labiopalatine avec dysplasie ectodermique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5865591000241111 syndrome de Zlotogora Ogur fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5865571000241112 syndromes de fentes labiale et palatine avec dysplasie ectodermique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5865581000241114 syndrome de fente labiopalatine avec dysplasie ectodermique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5865591000241111 syndrome de Zlotogora Ogur fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3395441001000115 Lippen-Kiefer-Gaumen-Spalte-ektodermale Dysplasie-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
Zlotogora Ogur syndrome Is a Ectodermal dysplasia true Inferred relationship Existential restriction modifier (core metadata concept)
Zlotogora Ogur syndrome Is a Cleft palate with cleft lip true Inferred relationship Existential restriction modifier (core metadata concept)
Zlotogora Ogur syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Zlotogora Ogur syndrome Is a Congenital anomaly of palate false Inferred relationship Existential restriction modifier (core metadata concept)
Zlotogora Ogur syndrome Is a Digestive system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Zlotogora Ogur syndrome Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Zlotogora Ogur syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Zlotogora Ogur syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Zlotogora Ogur syndrome Associated morphology Congenital failure of fusion false Inferred relationship Existential restriction modifier (core metadata concept) 6
Zlotogora Ogur syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Zlotogora Ogur syndrome Finding site Lip structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 6
Zlotogora Ogur syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 7
Zlotogora Ogur syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 4
Zlotogora Ogur syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Zlotogora Ogur syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 5
Zlotogora Ogur syndrome Finding site Ectoderm structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Zlotogora Ogur syndrome Associated morphology Congenital failure of fusion false Inferred relationship Existential restriction modifier (core metadata concept) 7
Zlotogora Ogur syndrome Finding site Palatal structure false Inferred relationship Existential restriction modifier (core metadata concept) 7
Zlotogora Ogur syndrome Finding site Lip structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Zlotogora Ogur syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Zlotogora Ogur syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Zlotogora Ogur syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Zlotogora Ogur syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Zlotogora Ogur syndrome Finding site Lip structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Zlotogora Ogur syndrome Finding site Palatal structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Zlotogora Ogur syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Zlotogora Ogur syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Zlotogora Ogur syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Zlotogora Ogur syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Zlotogora Ogur syndrome Finding site Palatal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Zlotogora Ogur syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Zlotogora Ogur syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Zlotogora Ogur syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Zlotogora Ogur syndrome Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Zlotogora Ogur syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Zlotogora Ogur syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Zlotogora Ogur syndrome Finding site Ectoderm structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Zlotogora Ogur syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Zlotogora Ogur syndrome Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
Zlotogora Ogur syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Zlotogora Ogur syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Zlotogora Ogur syndrome Finding site Bone structure of head false Inferred relationship Existential restriction modifier (core metadata concept) 5
Zlotogora Ogur syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

Back to Start