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


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3321972019 Contracture with ectodermal dysplasia and orofacial cleft syndrome en Synonym Active Case insensitive SNOMED CT core
3321973012 Ladda Zonana Ramer syndrome en Synonym Active Case sensitive 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 Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Contracture with ectodermal dysplasia and orofacial cleft syndrome Occurrence Congenital true Inferred relationship Some 2
Contracture with ectodermal dysplasia and orofacial cleft syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Contracture with ectodermal dysplasia and orofacial cleft syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 5
Contracture with ectodermal dysplasia and orofacial cleft syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 6
Contracture with ectodermal dysplasia and orofacial cleft syndrome Is a Inherited arthrogryposis true Inferred relationship Some
Contracture with ectodermal dysplasia and orofacial cleft syndrome Pathological process Pathological developmental process true Inferred relationship Some 5
Contracture with ectodermal dysplasia and orofacial cleft syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Contracture with ectodermal dysplasia and orofacial cleft syndrome Pathological process Pathological developmental process true Inferred relationship Some 6
Contracture with ectodermal dysplasia and orofacial cleft syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Contracture with ectodermal dysplasia and orofacial cleft syndrome Finding site Ectoderm structure true Inferred relationship Some 1
Contracture with ectodermal dysplasia and orofacial cleft syndrome Occurrence Congenital true Inferred relationship Some 3
Contracture with ectodermal dysplasia and orofacial cleft syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Contracture with ectodermal dysplasia and orofacial cleft syndrome Associated morphology Contracture true Inferred relationship Some 3
Contracture with ectodermal dysplasia and orofacial cleft syndrome Finding site Structure of internal part of mouth false Inferred relationship Some 2
Contracture with ectodermal dysplasia and orofacial cleft syndrome Pathological process Pathological developmental process true Inferred relationship Some 4
Contracture with ectodermal dysplasia and orofacial cleft syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 3
Contracture with ectodermal dysplasia and orofacial cleft syndrome Finding site Ectoderm structure false Inferred relationship Some 3
Contracture with ectodermal dysplasia and orofacial cleft syndrome Associated morphology Contracture false Inferred relationship Some 1
Contracture with ectodermal dysplasia and orofacial cleft syndrome Finding site Joint structure false Inferred relationship Some 1
Contracture with ectodermal dysplasia and orofacial cleft syndrome Has interpretation Decreased true Inferred relationship Some 7
Contracture with ectodermal dysplasia and orofacial cleft syndrome Associated morphology Dysplasia true Inferred relationship Some 1
Contracture with ectodermal dysplasia and orofacial cleft syndrome Finding site Structure of joint region true Inferred relationship Some 3
Contracture with ectodermal dysplasia and orofacial cleft syndrome Interprets Range of joint movement true Inferred relationship Some 7
Contracture with ectodermal dysplasia and orofacial cleft syndrome Finding site Hair structure true Inferred relationship Some 5
Contracture with ectodermal dysplasia and orofacial cleft syndrome Finding site Tooth structure true Inferred relationship Some 2
Contracture with ectodermal dysplasia and orofacial cleft syndrome Pathological process Pathological developmental process true Inferred relationship Some 8
Contracture with ectodermal dysplasia and orofacial cleft syndrome Associated morphology Developmental failure of fusion true Inferred relationship Some 8
Contracture with ectodermal dysplasia and orofacial cleft syndrome Finding site Bone structure of head true Inferred relationship Some 8
Contracture with ectodermal dysplasia and orofacial cleft syndrome Is a Congenital abnormality of skull and face bones true Inferred relationship Some
Contracture with ectodermal dysplasia and orofacial cleft syndrome Is a Hereditary disorder of tooth true Inferred relationship Some
Contracture with ectodermal dysplasia and orofacial cleft syndrome Interprets Intellectual ability true Inferred relationship Some 9
Contracture with ectodermal dysplasia and orofacial cleft syndrome Has interpretation Impaired true Inferred relationship Some 9
Contracture with ectodermal dysplasia and orofacial cleft syndrome Interprets Adaptation behaviour true Inferred relationship Some 10
Contracture with ectodermal dysplasia and orofacial cleft syndrome Has interpretation Impaired true Inferred relationship Some 10
Contracture with ectodermal dysplasia and orofacial cleft syndrome Finding site Skin structure false Inferred relationship Some 5
Contracture with ectodermal dysplasia and orofacial cleft syndrome Associated morphology Developmental abnormality false Inferred relationship Some 6
Contracture with ectodermal dysplasia and orofacial cleft syndrome Finding site Structure of internal part of mouth false Inferred relationship Some 6
Contracture with ectodermal dysplasia and orofacial cleft syndrome Associated morphology Developmental abnormality false Inferred relationship Some 7
Contracture with ectodermal dysplasia and orofacial cleft syndrome Finding site Face structure false Inferred relationship Some 7
Contracture with ectodermal dysplasia and orofacial cleft syndrome Associated morphology Contracture false Inferred relationship Some 9
Contracture with ectodermal dysplasia and orofacial cleft syndrome Finding site Joint structure false Inferred relationship Some 9
Contracture with ectodermal dysplasia and orofacial cleft syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Contracture with ectodermal dysplasia and orofacial cleft syndrome Is a Intellectual disability false Inferred relationship Some
Contracture with ectodermal dysplasia and orofacial cleft syndrome Is a Arthrogryposis false Inferred relationship Some
Contracture with ectodermal dysplasia and orofacial cleft syndrome Is a Ectodermal dysplasia with hair-tooth defects true Inferred relationship Some
Contracture with ectodermal dysplasia and orofacial cleft syndrome Is a Digestive system hereditary disorder false Inferred relationship Some
Contracture with ectodermal dysplasia and orofacial cleft syndrome Is a Hereditary disorder of the integument true Inferred relationship Some
Contracture with ectodermal dysplasia and orofacial cleft syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Contracture with ectodermal dysplasia and orofacial cleft syndrome Is a Orofacial cleft true Inferred relationship Some
Contracture with ectodermal dysplasia and orofacial cleft syndrome Occurrence Congenital true Inferred relationship Some 5
Contracture with ectodermal dysplasia and orofacial cleft syndrome Occurrence Congenital true Inferred relationship Some 6
Contracture with ectodermal dysplasia and orofacial cleft syndrome Occurrence Congenital false Inferred relationship Some 7
Contracture with ectodermal dysplasia and orofacial cleft syndrome Associated morphology Developmental abnormality false Inferred relationship Some 8
Contracture with ectodermal dysplasia and orofacial cleft syndrome Occurrence Congenital true Inferred relationship Some 8
Contracture with ectodermal dysplasia and orofacial cleft syndrome Occurrence Congenital false Inferred relationship Some 9
Contracture with ectodermal dysplasia and orofacial cleft syndrome Finding site Skin structure false Inferred relationship Some 8
Contracture with ectodermal dysplasia and orofacial cleft syndrome Finding site Face structure true Inferred relationship Some 6
Contracture with ectodermal dysplasia and orofacial cleft syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 5
Contracture with ectodermal dysplasia and orofacial cleft syndrome Finding site Ectoderm structure false Inferred relationship Some 5
Contracture with ectodermal dysplasia and orofacial cleft syndrome Is a Intellectual disability true Inferred relationship Some
Contracture with ectodermal dysplasia and orofacial cleft syndrome Is a Congenital abnormality of oral cavity false Inferred relationship Some
Contracture with ectodermal dysplasia and orofacial cleft syndrome Occurrence Congenital true Inferred relationship Some 1
Contracture with ectodermal dysplasia and orofacial cleft syndrome Occurrence Congenital true Inferred relationship Some 4
Contracture with ectodermal dysplasia and orofacial cleft syndrome Finding site Structure of subregion of head true Inferred relationship Some 4
Contracture with ectodermal dysplasia and orofacial cleft syndrome Associated morphology Developmental failure of fusion true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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