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722032005: Karsch Neugebauer 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
3330229016 Karsch Neugebauer syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3330231013 Karsch Neugebauer syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3330230014 A rare syndrome with characteristics of split-hand and split-foot deformity and ocular abnormalities mainly a congenital nystagmus. Ten cases from four families have been reported in the literature. In some cases the hands are monodactylous. The affected patients have normal mental development. The condition seems to be autosomal dominant with a relatively high proportion of gonadal mosaicism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3911151000052112 Karsch-Neugebauers syndrom sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Karsch Neugebauer syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Karsch Neugebauer syndrome Is a Congenital anomaly of the hand true Inferred relationship Some
Karsch Neugebauer syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Karsch Neugebauer syndrome Is a Dysostosis true Inferred relationship Some
Karsch Neugebauer syndrome Is a Congenital anomaly of visual system true Inferred relationship Some
Karsch Neugebauer syndrome Is a Split foot true Inferred relationship Some
Karsch Neugebauer syndrome Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Karsch Neugebauer syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Karsch Neugebauer syndrome Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Karsch Neugebauer syndrome Associated morphology medfödd utebliven fusion false Inferred relationship Some 5
Karsch Neugebauer syndrome Occurrence Congenital true Inferred relationship Some 5
Karsch Neugebauer syndrome Occurrence Congenital false Inferred relationship Some 6
Karsch Neugebauer syndrome Associated morphology kongenital dysplasi false Inferred relationship Some 7
Karsch Neugebauer syndrome Occurrence Congenital false Inferred relationship Some 7
Karsch Neugebauer syndrome Finding site Bone structure false Inferred relationship Some 7
Karsch Neugebauer syndrome Occurrence Congenital false Inferred relationship Some 8
Karsch Neugebauer syndrome Occurrence Congenital false Inferred relationship Some 9
Karsch Neugebauer syndrome Associated morphology medfödd utebliven fusion false Inferred relationship Some 8
Karsch Neugebauer syndrome Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 9
Karsch Neugebauer syndrome Finding site Entire digit false Inferred relationship Some 9
Karsch Neugebauer syndrome Associated morphology utvecklingsabnormitet false Inferred relationship Some 6
Karsch Neugebauer syndrome Finding site Structure of visual system (body structure) false Inferred relationship Some 6
Karsch Neugebauer syndrome Finding site Foot structure false Inferred relationship Some 8
Karsch Neugebauer syndrome Finding site Hand structure false Inferred relationship Some 5
Karsch Neugebauer syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 1
Karsch Neugebauer syndrome Occurrence Congenital true Inferred relationship Some 1
Karsch Neugebauer syndrome Finding site Foot structure true Inferred relationship Some 1
Karsch Neugebauer syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 2
Karsch Neugebauer syndrome Occurrence Congenital true Inferred relationship Some 2
Karsch Neugebauer syndrome Finding site Hand structure true Inferred relationship Some 2
Karsch Neugebauer syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Karsch Neugebauer syndrome Finding site Bone structure true Inferred relationship Some 4
Karsch Neugebauer syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Karsch Neugebauer syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Karsch Neugebauer syndrome Occurrence Congenital true Inferred relationship Some 4
Karsch Neugebauer syndrome Associated morphology kongenital dysplasi false Inferred relationship Some 4
Karsch Neugebauer syndrome Finding site Structure of visual system (body structure) true Inferred relationship Some 3
Karsch Neugebauer syndrome Occurrence Congenital true Inferred relationship Some 3
Karsch Neugebauer syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Karsch Neugebauer syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Karsch Neugebauer syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Karsch Neugebauer syndrome Associated morphology Absence (morphologic abnormality) true Inferred relationship Some 5
Karsch Neugebauer syndrome Finding site Entire lesser toe true Inferred relationship Some 5
Karsch Neugebauer syndrome Associated morphology Dysplasia true Inferred relationship Some 4
Karsch Neugebauer syndrome Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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