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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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Karsch Neugebauer syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Karsch Neugebauer syndrome localisation d'une constatation (attribut) structure osseuse 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 survenue (attribut) congénital true Inferred relationship Some 4
Karsch Neugebauer syndrome morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 4
Karsch Neugebauer syndrome localisation d'une constatation (attribut) Structure of visual system (body structure) true Inferred relationship Some 3
Karsch Neugebauer syndrome survenue (attribut) congénital 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 morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 3
Karsch Neugebauer syndrome morphologie associée (attribut) Absence (morphologic abnormality) true Inferred relationship Some 5
Karsch Neugebauer syndrome localisation d'une constatation (attribut) Entire lesser toe true Inferred relationship Some 5
Karsch Neugebauer syndrome morphologie associée (attribut) dysplasie true Inferred relationship Some 4
Karsch Neugebauer syndrome est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Karsch Neugebauer syndrome est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Karsch Neugebauer syndrome est un(e) (attribut) Congenital anomaly of hand (disorder) true Inferred relationship Some
Karsch Neugebauer syndrome est un(e) (attribut) Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Karsch Neugebauer syndrome est un(e) (attribut) Dysostosis true Inferred relationship Some
Karsch Neugebauer syndrome est un(e) (attribut) Congenital anomaly of visual system true Inferred relationship Some
Karsch Neugebauer syndrome est un(e) (attribut) Split foot true Inferred relationship Some
Karsch Neugebauer syndrome est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Karsch Neugebauer syndrome est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Karsch Neugebauer syndrome est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Karsch Neugebauer syndrome morphologie associée (attribut) Congenital failure of fusion false Inferred relationship Some 5
Karsch Neugebauer syndrome survenue (attribut) congénital true Inferred relationship Some 5
Karsch Neugebauer syndrome survenue (attribut) congénital false Inferred relationship Some 6
Karsch Neugebauer syndrome morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 7
Karsch Neugebauer syndrome survenue (attribut) congénital false Inferred relationship Some 7
Karsch Neugebauer syndrome localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 7
Karsch Neugebauer syndrome survenue (attribut) congénital false Inferred relationship Some 8
Karsch Neugebauer syndrome survenue (attribut) congénital false Inferred relationship Some 9
Karsch Neugebauer syndrome morphologie associée (attribut) Congenital failure of fusion false Inferred relationship Some 8
Karsch Neugebauer syndrome morphologie associée (attribut) Congenital absence false Inferred relationship Some 9
Karsch Neugebauer syndrome localisation d'une constatation (attribut) Entire digit false Inferred relationship Some 9
Karsch Neugebauer syndrome morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 6
Karsch Neugebauer syndrome localisation d'une constatation (attribut) Structure of visual system (body structure) false Inferred relationship Some 6
Karsch Neugebauer syndrome localisation d'une constatation (attribut) pied (structure corporelle) false Inferred relationship Some 8
Karsch Neugebauer syndrome localisation d'une constatation (attribut) main false Inferred relationship Some 5
Karsch Neugebauer syndrome morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 1
Karsch Neugebauer syndrome survenue (attribut) congénital true Inferred relationship Some 1
Karsch Neugebauer syndrome localisation d'une constatation (attribut) pied (structure corporelle) true Inferred relationship Some 1
Karsch Neugebauer syndrome morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 2
Karsch Neugebauer syndrome survenue (attribut) congénital true Inferred relationship Some 2
Karsch Neugebauer syndrome localisation d'une constatation (attribut) main true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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