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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

0 descendants.

Expanded Value Set

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

Reference Sets

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

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