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720746006: Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3321971014 Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3321972019 Contracture with ectodermal dysplasia and orofacial cleft syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3321973012 Ladda Zonana Ramer syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402453018 A rare ectodermal dysplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402454012 A rare ectodermal dysplasia syndrome characterised by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple naevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3321971014 Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3321971014 Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3321972019 Contracture with ectodermal dysplasia and orofacial cleft syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3321972019 Contracture with ectodermal dysplasia and orofacial cleft syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3321973012 Ladda Zonana Ramer syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3321974018 An ectodermal dysplasia syndrome with characteristics of severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3777385013 An ectodermal dysplasia syndrome with characteristics of severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple naevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402453018 A rare ectodermal dysplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402454012 A rare ectodermal dysplasia syndrome characterised by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple naevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3454161001000113 Kontrakturen-ektodermale Dysplasie-Lippen-Kiefer-Gaumenspalte-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5915931000241112 syndrome de contractures, dysplasie ectodermique et fente labiopalatine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5915941000241119 syndrome de Ladda-Zonana-Ramer fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5915931000241112 syndrome de contractures, dysplasie ectodermique et fente labiopalatine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5915941000241119 syndrome de Ladda-Zonana-Ramer fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3454161001000113 Kontrakturen-ektodermale Dysplasie-Lippen-Kiefer-Gaumenspalte-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
Contracture with ectodermal dysplasia and orofacial cleft syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Contracture with ectodermal dysplasia and orofacial cleft syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 6
Contracture with ectodermal dysplasia and orofacial cleft syndrome Finding site Structure of internal part of mouth false Inferred relationship Existential restriction modifier (core metadata concept) 6
Contracture with ectodermal dysplasia and orofacial cleft syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 7
Contracture with ectodermal dysplasia and orofacial cleft syndrome Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 7
Contracture with ectodermal dysplasia and orofacial cleft syndrome Associated morphology Contracture false Inferred relationship Existential restriction modifier (core metadata concept) 9
Contracture with ectodermal dysplasia and orofacial cleft syndrome Finding site Joint structure false Inferred relationship Existential restriction modifier (core metadata concept) 9
Contracture with ectodermal dysplasia and orofacial cleft syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Contracture with ectodermal dysplasia and orofacial cleft syndrome Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
Contracture with ectodermal dysplasia and orofacial cleft syndrome Is a Arthrogryposis false Inferred relationship Existential restriction modifier (core metadata concept)
Contracture with ectodermal dysplasia and orofacial cleft syndrome Is a Ectodermal dysplasia with hair-tooth defects true Inferred relationship Existential restriction modifier (core metadata concept)
Contracture with ectodermal dysplasia and orofacial cleft syndrome Is a Digestive system hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Contracture with ectodermal dysplasia and orofacial cleft syndrome Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Contracture with ectodermal dysplasia and orofacial cleft syndrome Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
Contracture with ectodermal dysplasia and orofacial cleft syndrome Is a Orofacial cleft true Inferred relationship Existential restriction modifier (core metadata concept)
Contracture with ectodermal dysplasia and orofacial cleft syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Contracture with ectodermal dysplasia and orofacial cleft syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 6
Contracture with ectodermal dysplasia and orofacial cleft syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 7
Contracture with ectodermal dysplasia and orofacial cleft syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 8
Contracture with ectodermal dysplasia and orofacial cleft syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 8
Contracture with ectodermal dysplasia and orofacial cleft syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 9
Contracture with ectodermal dysplasia and orofacial cleft syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 8
Contracture with ectodermal dysplasia and orofacial cleft syndrome Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Contracture with ectodermal dysplasia and orofacial cleft syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 5
Contracture with ectodermal dysplasia and orofacial cleft syndrome Finding site Ectoderm structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Contracture with ectodermal dysplasia and orofacial cleft syndrome Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Contracture with ectodermal dysplasia and orofacial cleft syndrome Is a Congenital abnormality of oral cavity false Inferred relationship Existential restriction modifier (core metadata concept)
Contracture with ectodermal dysplasia and orofacial cleft syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Contracture with ectodermal dysplasia and orofacial cleft syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Contracture with ectodermal dysplasia and orofacial cleft syndrome Finding site Head region structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Contracture with ectodermal dysplasia and orofacial cleft syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Contracture with ectodermal dysplasia and orofacial cleft syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Contracture with ectodermal dysplasia and orofacial cleft syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Contracture with ectodermal dysplasia and orofacial cleft syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Contracture with ectodermal dysplasia and orofacial cleft syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 6
Contracture with ectodermal dysplasia and orofacial cleft syndrome Is a Inherited arthrogryposis true Inferred relationship Existential restriction modifier (core metadata concept)
Contracture with ectodermal dysplasia and orofacial cleft syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Contracture with ectodermal dysplasia and orofacial cleft syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Contracture with ectodermal dysplasia and orofacial cleft syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Contracture with ectodermal dysplasia and orofacial cleft syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Contracture with ectodermal dysplasia and orofacial cleft syndrome Finding site Ectoderm structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Contracture with ectodermal dysplasia and orofacial cleft syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Contracture with ectodermal dysplasia and orofacial cleft syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Contracture with ectodermal dysplasia and orofacial cleft syndrome Associated morphology Contracture true Inferred relationship Existential restriction modifier (core metadata concept) 3
Contracture with ectodermal dysplasia and orofacial cleft syndrome Finding site Structure of internal part of mouth false Inferred relationship Existential restriction modifier (core metadata concept) 2
Contracture with ectodermal dysplasia and orofacial cleft syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Contracture with ectodermal dysplasia and orofacial cleft syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
Contracture with ectodermal dysplasia and orofacial cleft syndrome Finding site Ectoderm structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Contracture with ectodermal dysplasia and orofacial cleft syndrome Associated morphology Contracture false Inferred relationship Existential restriction modifier (core metadata concept) 1
Contracture with ectodermal dysplasia and orofacial cleft syndrome Finding site Joint structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Contracture with ectodermal dysplasia and orofacial cleft syndrome Has interpretation Decreased true Inferred relationship Existential restriction modifier (core metadata concept) 7
Contracture with ectodermal dysplasia and orofacial cleft syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Contracture with ectodermal dysplasia and orofacial cleft syndrome Finding site Structure of joint region true Inferred relationship Existential restriction modifier (core metadata concept) 3
Contracture with ectodermal dysplasia and orofacial cleft syndrome Interprets Range of joint movement true Inferred relationship Existential restriction modifier (core metadata concept) 7
Contracture with ectodermal dysplasia and orofacial cleft syndrome Finding site Hair structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Contracture with ectodermal dysplasia and orofacial cleft syndrome Finding site Tooth structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Contracture with ectodermal dysplasia and orofacial cleft syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 8
Contracture with ectodermal dysplasia and orofacial cleft syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 8
Contracture with ectodermal dysplasia and orofacial cleft syndrome Finding site Bone structure of head true Inferred relationship Existential restriction modifier (core metadata concept) 8
Contracture with ectodermal dysplasia and orofacial cleft syndrome Is a Congenital abnormality of skull and face bones (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Contracture with ectodermal dysplasia and orofacial cleft syndrome Is a Hereditary disorder of tooth true Inferred relationship Existential restriction modifier (core metadata concept)
Contracture with ectodermal dysplasia and orofacial cleft syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 9
Contracture with ectodermal dysplasia and orofacial cleft syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 9
Contracture with ectodermal dysplasia and orofacial cleft syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 10
Contracture with ectodermal dysplasia and orofacial cleft syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 10
Contracture with ectodermal dysplasia and orofacial cleft syndrome Finding site Joint structure of multiple body sites (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 11
Contracture with ectodermal dysplasia and orofacial cleft syndrome Associated morphology Contracture true Inferred relationship Existential restriction modifier (core metadata concept) 11
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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