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719949001: syndroom van trigonocefalie en brede digiti I (aandoening)


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
3314976016 Trigonocephaly with broad thumb syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3318436014 Trigonocephaly with broad thumb syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3318556013 Hunter Rudd Hoffmann syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
6385891000146111 syndroom van Hunter-Rudd-Hoffmann nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6994611000146112 syndroom van trigonocefalie en brede duimen nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12020061000146112 syndroom van trigonocefalie en brede digiti I (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12125691000146110 syndroom van trigonocefalie en brede digiti I nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3318557016 This syndrome has characteristics of neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait. 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
Trigonocephaly with broad thumb syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Trigonocephaly with broad thumb syndrome (disorder) Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Trigonocephaly with broad thumb syndrome (disorder) Is a Trigonocephaly true Inferred relationship Some
Trigonocephaly with broad thumb syndrome (disorder) Is a Disorder of hand (disorder) true Inferred relationship Some
Trigonocephaly with broad thumb syndrome (disorder) Is a Congenital anomaly of nose true Inferred relationship Some
Trigonocephaly with broad thumb syndrome (disorder) Is a Broad thumbs true Inferred relationship Some
Trigonocephaly with broad thumb syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Trigonocephaly with broad thumb syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Trigonocephaly with broad thumb syndrome (disorder) Is a Congenital anomaly of digit (disorder) true Inferred relationship Some
Trigonocephaly with broad thumb syndrome (disorder) Finding site Thumb structure true Inferred relationship Some 6
Trigonocephaly with broad thumb syndrome (disorder) Interprets Form of thumb false Inferred relationship Some 5
Trigonocephaly with broad thumb syndrome (disorder) Associated morphology congenitale afwijkende vorm (afwijkende morfologie) false Inferred relationship Some 6
Trigonocephaly with broad thumb syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Trigonocephaly with broad thumb syndrome (disorder) Finding site Frontal bone structure false Inferred relationship Some 6
Trigonocephaly with broad thumb syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 7
Trigonocephaly with broad thumb syndrome (disorder) Occurrence Congenital false Inferred relationship Some 7
Trigonocephaly with broad thumb syndrome (disorder) Finding site Nasal structure false Inferred relationship Some 7
Trigonocephaly with broad thumb syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 8
Trigonocephaly with broad thumb syndrome (disorder) Occurrence Congenital false Inferred relationship Some 8
Trigonocephaly with broad thumb syndrome (disorder) Finding site Digit structure false Inferred relationship Some 8
Trigonocephaly with broad thumb syndrome (disorder) Associated morphology congenitale premature fusie false Inferred relationship Some 9
Trigonocephaly with broad thumb syndrome (disorder) Occurrence Congenital false Inferred relationship Some 9
Trigonocephaly with broad thumb syndrome (disorder) Finding site Structure of frontal suture of skull false Inferred relationship Some 9
Trigonocephaly with broad thumb syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Trigonocephaly with broad thumb syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Trigonocephaly with broad thumb syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Trigonocephaly with broad thumb syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Trigonocephaly with broad thumb syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Trigonocephaly with broad thumb syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Trigonocephaly with broad thumb syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Trigonocephaly with broad thumb syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Trigonocephaly with broad thumb syndrome (disorder) Finding site Digit structure true Inferred relationship Some 3
Trigonocephaly with broad thumb syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Trigonocephaly with broad thumb syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Trigonocephaly with broad thumb syndrome (disorder) Associated morphology congenitale afwijkende vorm (afwijkende morfologie) false Inferred relationship Some 4
Trigonocephaly with broad thumb syndrome (disorder) Finding site Frontal bone structure true Inferred relationship Some 4
Trigonocephaly with broad thumb syndrome (disorder) Finding site Nasal structure true Inferred relationship Some 1
Trigonocephaly with broad thumb syndrome (disorder) Finding site Structure of frontal suture of skull true Inferred relationship Some 2
Trigonocephaly with broad thumb syndrome (disorder) Associated morphology congenitale premature fusie false Inferred relationship Some 2
Trigonocephaly with broad thumb syndrome (disorder) Associated morphology Abnormal shape (morphologic abnormality) true Inferred relationship Some 4
Trigonocephaly with broad thumb syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Trigonocephaly with broad thumb syndrome (disorder) Associated morphology Premature fusion 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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