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764697003: Verloove Vanhorick Brubakk syndrome (disorder)


Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3654717019 Verloove Vanhorick Brubakk syndrome en Synonym Active Case sensitive SNOMED CT core
3654718012 Cleft lip, limb and heart malformation syndrome en Synonym Active Case insensitive SNOMED CT core
3654719016 Verloove Vanhorick Brubakk syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core
3654247018 A multiple congenital anomalies/dysmorphic syndrome with characteristics of multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligo/polysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Verloove Vanhorick Brubakk syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Verloove Vanhorick Brubakk syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Verloove Vanhorick Brubakk syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Verloove Vanhorick Brubakk syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Verloove Vanhorick Brubakk syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 3
Verloove Vanhorick Brubakk syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Verloove Vanhorick Brubakk syndrome Is a Congenital anomaly of skeletal bone true Inferred relationship Some
Verloove Vanhorick Brubakk syndrome Is a Congenital heart disease true Inferred relationship Some
Verloove Vanhorick Brubakk syndrome Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Verloove Vanhorick Brubakk syndrome Associated morphology Developmental abnormality false Inferred relationship Some 3
Verloove Vanhorick Brubakk syndrome Occurrence Congenital true Inferred relationship Some 3
Verloove Vanhorick Brubakk syndrome Finding site Face structure false Inferred relationship Some 3
Verloove Vanhorick Brubakk syndrome Finding site Structure of heart true Inferred relationship Some 3
Verloove Vanhorick Brubakk syndrome Associated morphology Developmental abnormality false Inferred relationship Some 2
Verloove Vanhorick Brubakk syndrome Finding site Face structure true Inferred relationship Some 2
Verloove Vanhorick Brubakk syndrome Occurrence Congenital true Inferred relationship Some 2
Verloove Vanhorick Brubakk syndrome Associated morphology Developmental abnormality false Inferred relationship Some 1
Verloove Vanhorick Brubakk syndrome Occurrence Congenital true Inferred relationship Some 1
Verloove Vanhorick Brubakk syndrome Finding site Bone structure of extremity true Inferred relationship Some 1
Verloove Vanhorick Brubakk syndrome Finding site Structure of heart false Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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