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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 Reference Sets
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 GB English: Preferred (foundation metadata concept)
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 GB English: Preferred (foundation metadata concept)
3321973012 Ladda Zonana Ramer syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
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 US English: Preferred (foundation metadata concept)
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 GB English: Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Finding site Skin structure false Inferred relationship Some 5
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Associated morphology dysgenese false Inferred relationship Some 6
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Finding site Structure of internal part of mouth false Inferred relationship Some 6
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Associated morphology dysgenese false Inferred relationship Some 7
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Finding site Face structure false Inferred relationship Some 7
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Associated morphology Contracture false Inferred relationship Some 9
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Finding site Joint structure false Inferred relationship Some 9
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature (disorder) true Inferred relationship Some
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Is a mental retardering false Inferred relationship Some
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Is a Arthrogryposis false Inferred relationship Some
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Is a Ectodermal dysplasia with hair-tooth defects true Inferred relationship Some
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Is a Digestive system hereditary disorder (disorder) false Inferred relationship Some
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Is a Orofacial cleft (disorder) true Inferred relationship Some
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Occurrence Congenital true Inferred relationship Some 5
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Occurrence Congenital true Inferred relationship Some 6
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Occurrence Congenital false Inferred relationship Some 7
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Associated morphology dysgenese false Inferred relationship Some 8
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Occurrence Congenital true Inferred relationship Some 8
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Occurrence Congenital false Inferred relationship Some 9
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Finding site Skin structure false Inferred relationship Some 8
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Finding site Face structure true Inferred relationship Some 6
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Associated morphology kongenit dysplasi false Inferred relationship Some 5
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Finding site Ectoderm structure false Inferred relationship Some 5
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Is a Intellectual disability (disorder) true Inferred relationship Some
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Is a Congenital abnormality of oral cavity (disorder) false Inferred relationship Some
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Finding site Structure of subregion of head true Inferred relationship Some 4
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 4
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 5
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 6
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Is a Inherited arthrogryposis true Inferred relationship Some
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 6
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Finding site Ectoderm structure true Inferred relationship Some 1
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Associated morphology Contracture true Inferred relationship Some 3
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Finding site Structure of internal part of mouth false Inferred relationship Some 2
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Associated morphology kongenit dysplasi false Inferred relationship Some 3
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Finding site Ectoderm structure false Inferred relationship Some 3
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Associated morphology Contracture false Inferred relationship Some 1
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Finding site Joint structure false Inferred relationship Some 1
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Has interpretation Decreased true Inferred relationship Some 7
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Finding site Structure of joint region true Inferred relationship Some 3
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Interprets Range of joint movement true Inferred relationship Some 7
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Finding site Hair structure (body structure) true Inferred relationship Some 5
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Finding site Tooth structure true Inferred relationship Some 2
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 8
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 8
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Finding site Bone structure of head true Inferred relationship Some 8
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Is a Congenital abnormality of skull and face bones true Inferred relationship Some
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Is a Hereditary disorder of tooth true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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