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719946008: Tel Hashomer camptodactyly 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
3318551015 Tel Hashomer camptodactyly syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318552010 Tel Hashomer camptodactyly syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402273013 Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402274019 Tel Hashomer camptodactyly syndrome is a rare syndrome characterised by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318551015 Tel Hashomer camptodactyly syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318552010 Tel Hashomer camptodactyly syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318553017 A rare syndrome with characteristics of camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics. Dysmorphic features include facial asymmetry, hypertelorism, broad nasal bridge, long philtrum and a small mouth. Winging scapulae, scoliosis, syndactyly and clinodactyly are commonly observed. The affected patients usually have normal mental development. The molecular basis of the syndrome has not yet been elucidated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402273013 Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402274019 Tel Hashomer camptodactyly syndrome is a rare syndrome characterised by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3382491001000117 Tel-Hashomer-Kamptodaktylie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1009441000172111 camptodactylie de Tel Hashomer fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1009441000172111 camptodactylie de Tel Hashomer fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3382491001000117 Tel-Hashomer-Kamptodaktylie-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
Tel Hashomer camptodactyly syndrome Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Tel Hashomer camptodactyly syndrome Is a Camptodactyly true Inferred relationship Existential restriction modifier (core metadata concept)
Tel Hashomer camptodactyly syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Tel Hashomer camptodactyly syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Tel Hashomer camptodactyly syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 4
Tel Hashomer camptodactyly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Tel Hashomer camptodactyly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Tel Hashomer camptodactyly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Tel Hashomer camptodactyly syndrome Finding site Finger structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Tel Hashomer camptodactyly syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 5
Tel Hashomer camptodactyly syndrome Associated morphology Flexion deformity false Inferred relationship Existential restriction modifier (core metadata concept) 6
Tel Hashomer camptodactyly syndrome Finding site Musculoskeletal structure of digit of hand false Inferred relationship Existential restriction modifier (core metadata concept) 6
Tel Hashomer camptodactyly syndrome Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Tel Hashomer camptodactyly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Tel Hashomer camptodactyly syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Tel Hashomer camptodactyly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Tel Hashomer camptodactyly syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Tel Hashomer camptodactyly syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Tel Hashomer camptodactyly syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Tel Hashomer camptodactyly syndrome Associated morphology Flexion deformity false Inferred relationship Existential restriction modifier (core metadata concept) 3
Tel Hashomer camptodactyly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Tel Hashomer camptodactyly syndrome Finding site Musculoskeletal structure of digit of hand true Inferred relationship Existential restriction modifier (core metadata concept) 3
Tel Hashomer camptodactyly syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Tel Hashomer camptodactyly syndrome Finding site Finger structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Tel Hashomer camptodactyly syndrome Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Tel Hashomer camptodactyly syndrome Is a Congenital anomaly of finger true Inferred relationship Existential restriction modifier (core metadata concept)
Tel Hashomer camptodactyly syndrome Associated morphology Fixed flexion deformity (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Tel Hashomer camptodactyly syndrome Is a Flexion deformity of hand true Inferred relationship Existential restriction modifier (core metadata concept)
Tel Hashomer camptodactyly syndrome Is a Finding of musculoskeletal structure of digit of hand true Inferred relationship Existential restriction modifier (core metadata concept)
Tel Hashomer camptodactyly syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Tel Hashomer camptodactyly syndrome Is a Congenital deformity of hand (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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