FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

719946008: Tel Hashomer camptodactyly syndrome (disorder)


Status: current, Primitive. 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 Case sensitive SNOMED CT core
3318552010 Tel Hashomer camptodactyly syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Tel Hashomer camptodactyly syndrome Occurrence Congenital true Inferred relationship Some 2
Tel Hashomer camptodactyly syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Tel Hashomer camptodactyly syndrome Occurrence Congenital true Inferred relationship Some 3
Tel Hashomer camptodactyly syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Tel Hashomer camptodactyly syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Tel Hashomer camptodactyly syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Tel Hashomer camptodactyly syndrome Associated morphology Flexion deformity false Inferred relationship Some 3
Tel Hashomer camptodactyly syndrome Occurrence Congenital true Inferred relationship Some 1
Tel Hashomer camptodactyly syndrome Finding site Musculoskeletal structure of digit of hand true Inferred relationship Some 3
Tel Hashomer camptodactyly syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Tel Hashomer camptodactyly syndrome Finding site Finger structure true Inferred relationship Some 2
Tel Hashomer camptodactyly syndrome Finding site Face structure true Inferred relationship Some 1
Tel Hashomer camptodactyly syndrome Is a Congenital anomaly of finger true Inferred relationship Some
Tel Hashomer camptodactyly syndrome Associated morphology Fixed flexion deformity true Inferred relationship Some 3
Tel Hashomer camptodactyly syndrome Is a Flexion deformity of hand true Inferred relationship Some
Tel Hashomer camptodactyly syndrome Is a Finding of musculoskeletal structure of digit of hand true Inferred relationship Some
Tel Hashomer camptodactyly syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Tel Hashomer camptodactyly syndrome Is a Congenital deformity of hand true Inferred relationship Some
Tel Hashomer camptodactyly syndrome Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Tel Hashomer camptodactyly syndrome Is a Camptodactyly true Inferred relationship Some
Tel Hashomer camptodactyly syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Tel Hashomer camptodactyly syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Tel Hashomer camptodactyly syndrome Associated morphology Developmental abnormality false Inferred relationship Some 4
Tel Hashomer camptodactyly syndrome Occurrence Congenital false Inferred relationship Some 4
Tel Hashomer camptodactyly syndrome Occurrence Congenital false Inferred relationship Some 5
Tel Hashomer camptodactyly syndrome Occurrence Congenital false Inferred relationship Some 6
Tel Hashomer camptodactyly syndrome Finding site Finger structure false Inferred relationship Some 4
Tel Hashomer camptodactyly syndrome Associated morphology Developmental abnormality false Inferred relationship Some 5
Tel Hashomer camptodactyly syndrome Associated morphology Flexion deformity false Inferred relationship Some 6
Tel Hashomer camptodactyly syndrome Finding site Musculoskeletal structure of digit of hand false Inferred relationship Some 6
Tel Hashomer camptodactyly syndrome Finding site Face structure false Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start