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733030003: Congenital hypoplasia of ulna and split foot syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3498603011 Van den Berghe Dequecker syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3498604017 Congenital hypoplasia of ulna and split foot syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498605016 Ulnar hypoplasia lobster-claw deformity of feet syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498606015 Congenital hypoplasia of ulna and split foot syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403675016 Ulnar hypoplasia-split foot syndrome is characterized by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403676015 Ulnar hypoplasia-split foot syndrome is characterised by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3498603011 Van den Berghe Dequecker syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3498604017 Congenital hypoplasia of ulna and split foot syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498605016 Ulnar hypoplasia lobster-claw deformity of feet syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498606015 Congenital hypoplasia of ulna and split foot syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3499936019 Syndrome with the association of severe ulnar hypoplasia, absence of fingers two to five and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403675016 Ulnar hypoplasia-split foot syndrome is characterized by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403676015 Ulnar hypoplasia-split foot syndrome is characterised by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
1057301000195111 Ulna-Hypoplasie-Spaltfuss-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5490681000241111 syndrome d'aplasie ulnaire et pied fendu fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5490681000241111 syndrome d'aplasie ulnaire et pied fendu fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1057301000195111 Ulna-Hypoplasie-Spaltfuss-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3418161001000110 Ulna-Hypoplasie-Spaltfuß-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
Congenital hypoplasia of ulna and split foot syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypoplasia of ulna and split foot syndrome Is a Congenital absence of finger true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypoplasia of ulna and split foot syndrome Is a Congenital hypoplasia of ulna true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypoplasia of ulna and split foot syndrome Is a Split foot true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypoplasia of ulna and split foot syndrome Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypoplasia of ulna and split foot syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypoplasia of ulna and split foot syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital hypoplasia of ulna and split foot syndrome Associated morphology Hypoplasia false Inferred relationship Existential restriction modifier (core metadata concept) 5
Congenital hypoplasia of ulna and split foot syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Congenital hypoplasia of ulna and split foot syndrome Finding site Bone structure of ulna false Inferred relationship Existential restriction modifier (core metadata concept) 5
Congenital hypoplasia of ulna and split foot syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Congenital hypoplasia of ulna and split foot syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital hypoplasia of ulna and split foot syndrome Finding site Foot structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital hypoplasia of ulna and split foot syndrome Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 6
Congenital hypoplasia of ulna and split foot syndrome Finding site Entire finger false Inferred relationship Existential restriction modifier (core metadata concept) 6
Congenital hypoplasia of ulna and split foot syndrome Finding site Entire finger true Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital hypoplasia of ulna and split foot syndrome Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital hypoplasia of ulna and split foot syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of ulna and split foot syndrome Finding site Bone structure of ulna true Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital hypoplasia of ulna and split foot syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of ulna and split foot syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital hypoplasia of ulna and split foot syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of ulna and split foot syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital hypoplasia of ulna and split foot syndrome Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital hypoplasia of ulna and split foot syndrome Finding site Foot structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of ulna and split foot syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital hypoplasia of ulna and split foot syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital hypoplasia of ulna and split foot syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital hypoplasia of ulna and split foot syndrome Finding site Entire lesser toe (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital hypoplasia of ulna and split foot syndrome Associated morphology Absence (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital hypoplasia of ulna and split foot syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypoplasia of ulna and split foot syndrome Associated morphology Absence (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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