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81780002: syndroom van exomphalos, macroglossie en gigantisme (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
135658017 Beckwith-Wiedemann syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
135659013 Wiedemann-Beckwith syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
135660015 Exomphalos-macroglossia-gigantism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
823088010 Beckwith-Wiedemann syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
1234637010 Beckwith's syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
6054071000146112 syndroom van Beckwith-Wiedemann nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6582171000146110 BWS nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6582181000146112 syndroom van Wiedemann-Beckwith nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6722291000146111 syndroom van exomphalos, macroglossie en gigantisme (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6722301000146110 syndroom van exomphalos, macroglossie en gigantisme nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13082931000146119 Aangeboren aandoening met te snelle groei, dikke grote tong, vergrote organen, navelbreuk; ook wel EMG-syndroom geheten (exomfalos-macroglossie-gigantisme). nl Definition Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Beckwith-Wiedemann syndrome Is a Congenital omphalocele true Inferred relationship Some
Beckwith-Wiedemann syndrome Is a Congenital anomaly of endocrine gland false Inferred relationship Some
Beckwith-Wiedemann syndrome Is a Enlarged tongue false Inferred relationship Some
Beckwith-Wiedemann syndrome Is a Gigantism true Inferred relationship Some
Beckwith-Wiedemann syndrome Is a Multiple malformation syndrome with early overgrowth true Inferred relationship Some
Beckwith-Wiedemann syndrome Is a Congenital anomaly of nervous system false Inferred relationship Some
Beckwith-Wiedemann syndrome Finding site Upper gastrointestinal tract structure false Inferred relationship Some 6
Beckwith-Wiedemann syndrome Finding site Jaw region structure false Inferred relationship Some
Beckwith-Wiedemann syndrome Occurrence Congenital false Inferred relationship Some
Beckwith-Wiedemann syndrome Finding site Entire endocrine gonad (body structure) false Inferred relationship Some
Beckwith-Wiedemann syndrome Finding site Umbilical structure true Inferred relationship Some 4
Beckwith-Wiedemann syndrome Finding site Brain structure false Inferred relationship Some 1
Beckwith-Wiedemann syndrome Associated morphology congenitale protrusie false Inferred relationship Some 4
Beckwith-Wiedemann syndrome Associated morphology Congenital failure of fusion false Inferred relationship Some 3
Beckwith-Wiedemann syndrome Associated morphology Congenital malformation false Inferred relationship Some 7
Beckwith-Wiedemann syndrome Associated morphology Hypertrophy (morphologic abnormality) false Inferred relationship Some 3
Beckwith-Wiedemann syndrome Associated morphology Hypertrophy (morphologic abnormality) false Inferred relationship Some 1
Beckwith-Wiedemann syndrome Finding site Tongue structure false Inferred relationship Some 4
Beckwith-Wiedemann syndrome Finding site Tongue structure false Inferred relationship Some 4
Beckwith-Wiedemann syndrome Finding site Tongue structure false Inferred relationship Some 1
Beckwith-Wiedemann syndrome Finding site structuur van buikwand (lichaamsstructuur) false Inferred relationship Some 1
Beckwith-Wiedemann syndrome Finding site Pars anterior of pituitary gland false Inferred relationship Some
Beckwith-Wiedemann syndrome Associated morphology congenitale hypertrofie (afwijkende morfologie) false Inferred relationship Some 5
Beckwith-Wiedemann syndrome Associated morphology Hypertrophy (morphologic abnormality) false Inferred relationship Some 1
Beckwith-Wiedemann syndrome Finding site Tongue structure false Inferred relationship Some 2
Beckwith-Wiedemann syndrome Is a Disorder of body wall and cavities false Inferred relationship Some
Beckwith-Wiedemann syndrome Finding site Face structure false Inferred relationship Some
Beckwith-Wiedemann syndrome Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some 6
Beckwith-Wiedemann syndrome Is a Congenital anomaly of pituitary gland false Inferred relationship Some
Beckwith-Wiedemann syndrome Finding site Oral cavity structure false Inferred relationship Some 7
Beckwith-Wiedemann syndrome Associated morphology Hypertrophy (morphologic abnormality) false Inferred relationship Some 2
Beckwith-Wiedemann syndrome Is a Enlargement of tongue false Inferred relationship Some
Beckwith-Wiedemann syndrome Is a Ear, face and neck congenital anomalies false Inferred relationship Some
Beckwith-Wiedemann syndrome Associated morphology Hypertrophy (morphologic abnormality) false Inferred relationship Some 2
Beckwith-Wiedemann syndrome Associated morphology Hypertrophy (morphologic abnormality) false Inferred relationship Some 3
Beckwith-Wiedemann syndrome Is a Disorder of soft tissue of body cavity false Inferred relationship Some
Beckwith-Wiedemann syndrome Associated morphology Hypertrophy (morphologic abnormality) false Inferred relationship Some 4
Beckwith-Wiedemann syndrome Associated morphology Hypertrophy (morphologic abnormality) false Inferred relationship Some 5
Beckwith-Wiedemann syndrome Finding site Umbilical structure false Inferred relationship Some 3
Beckwith-Wiedemann syndrome Finding site Umbilical structure false Inferred relationship Some 2
Beckwith-Wiedemann syndrome Associated morphology congenitale protrusie false Inferred relationship Some 2
Beckwith-Wiedemann syndrome Associated morphology congenitale protrusie false Inferred relationship Some 3
Beckwith-Wiedemann syndrome Has definitional manifestation Increased hormone production false Inferred relationship Some
Beckwith-Wiedemann syndrome Associated morphology Hernial opening (morphologic abnormality) false Inferred relationship Some 1
Beckwith-Wiedemann syndrome Associated morphology Herniated structure (morphologic abnormality) false Inferred relationship Some 2
Beckwith-Wiedemann syndrome Finding site Intestinal structure false Inferred relationship Some 2
Beckwith-Wiedemann syndrome Finding site structuur van buikwand (lichaamsstructuur) false Inferred relationship Some 1
Beckwith-Wiedemann syndrome Finding site structuur van buikwand (lichaamsstructuur) false Inferred relationship Some 5
Beckwith-Wiedemann syndrome Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some 5
Beckwith-Wiedemann syndrome Associated morphology Hernial opening (morphologic abnormality) false Inferred relationship Some 1
Beckwith-Wiedemann syndrome Associated morphology Hernial opening (morphologic abnormality) false Inferred relationship Some 2
Beckwith-Wiedemann syndrome Finding site Structure of pars distalis of pituitary (body structure) false Inferred relationship Some
Beckwith-Wiedemann syndrome Finding site structuur van buikwand (lichaamsstructuur) false Inferred relationship Some 1
Beckwith-Wiedemann syndrome Finding site structuur van buikwand (lichaamsstructuur) false Inferred relationship Some 5
Beckwith-Wiedemann syndrome Associated morphology Hernial opening (morphologic abnormality) false Inferred relationship Some 1
Beckwith-Wiedemann syndrome Associated morphology Hernial opening (morphologic abnormality) false Inferred relationship Some 3
Beckwith-Wiedemann syndrome Finding site Tongue structure false Inferred relationship Some 4
Beckwith-Wiedemann syndrome Associated morphology Enlargement (morphologic abnormality) false Inferred relationship Some 4
Beckwith-Wiedemann syndrome Associated morphology congenitale vergroting false Inferred relationship Some 6
Beckwith-Wiedemann syndrome Is a Congenital macroglossia true Inferred relationship Some
Beckwith-Wiedemann syndrome Finding site Entire tongue false Inferred relationship Some 6
Beckwith-Wiedemann syndrome Associated morphology Herniated structure (morphologic abnormality) false Inferred relationship Some 4
Beckwith-Wiedemann syndrome Finding site structuur van cavitas abdominalis et pelvis false Inferred relationship Some 4
Beckwith-Wiedemann syndrome Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Beckwith-Wiedemann syndrome Is a Digestive system hereditary disorder (disorder) true Inferred relationship Some
Beckwith-Wiedemann syndrome Is a Hereditary disorder of nervous system true Inferred relationship Some
Beckwith-Wiedemann syndrome Is a Hereditary cancer-predisposing syndrome true Inferred relationship Some
Beckwith-Wiedemann syndrome Occurrence Congenital false Inferred relationship Some 7
Beckwith-Wiedemann syndrome Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 7
Beckwith-Wiedemann syndrome Finding site structuur van buikwand (lichaamsstructuur) false Inferred relationship Some 7
Beckwith-Wiedemann syndrome Occurrence Congenital false Inferred relationship Some 8
Beckwith-Wiedemann syndrome Associated morphology congenitale vergroting false Inferred relationship Some 8
Beckwith-Wiedemann syndrome Finding site Entire tongue false Inferred relationship Some 8
Beckwith-Wiedemann syndrome Associated morphology Hernial opening (morphologic abnormality) false Inferred relationship Some 5
Beckwith-Wiedemann syndrome Finding site Umbilical structure false Inferred relationship Some 5
Beckwith-Wiedemann syndrome Occurrence Congenital false Inferred relationship Some 5
Beckwith-Wiedemann syndrome Occurrence Congenital true Inferred relationship Some 6
Beckwith-Wiedemann syndrome Finding site Structure of pars distalis of pituitary (body structure) true Inferred relationship Some 6
Beckwith-Wiedemann syndrome Has interpretation Increased true Inferred relationship Some 3
Beckwith-Wiedemann syndrome Interprets Hormone production true Inferred relationship Some 3
Beckwith-Wiedemann syndrome Finding site Entire tongue true Inferred relationship Some 2
Beckwith-Wiedemann syndrome Associated morphology congenitale vergroting false Inferred relationship Some 2
Beckwith-Wiedemann syndrome Associated morphology Herniated structure (morphologic abnormality) false Inferred relationship Some 5
Beckwith-Wiedemann syndrome Occurrence Congenital true Inferred relationship Some 2
Beckwith-Wiedemann syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Beckwith-Wiedemann syndrome Associated morphology Hernial opening (morphologic abnormality) true Inferred relationship Some 4
Beckwith-Wiedemann syndrome Finding site structuur van inwendig orgaan van buikholte en/of bekkenholte (lichaamsstructuur) false Inferred relationship Some 5
Beckwith-Wiedemann syndrome Occurrence Congenital true Inferred relationship Some 4
Beckwith-Wiedemann syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Beckwith-Wiedemann syndrome Associated morphology Enlargement (morphologic abnormality) true Inferred relationship Some 2
Beckwith-Wiedemann syndrome Associated morphology Herniated structure (morphologic abnormality) true Inferred relationship Some 1
Beckwith-Wiedemann syndrome Finding site Structure of organ within abdominopelvic cavity (body structure) false Inferred relationship Some 1
Beckwith-Wiedemann syndrome Occurrence Congenital true Inferred relationship Some 1
Beckwith-Wiedemann syndrome Finding site Structure of pars distalis of pituitary (body structure) true Inferred relationship Some 5
Beckwith-Wiedemann syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Beckwith-Wiedemann syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Beckwith-Wiedemann syndrome Interprets Height / growth measure true Inferred relationship Some 7
Beckwith-Wiedemann syndrome Finding site Intra-abdominopelvic structure true Inferred relationship Some 1
Beckwith-Wiedemann syndrome Is a Congenital neurological disorder (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Adrenal Cushing's syndrome associated with Beckwith-Wiedemann syndrome (disorder) Associated with True Beckwith-Wiedemann syndrome Inferred relationship Some 1

This concept is not in any reference sets

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