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24216005: Congenital absence (morphologic abnormality)


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
40644015 Congenital absence en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
753828014 Congenital absence (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
40644015 Congenital absence en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
40644015 Congenital absence en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
40648017 Congenital aplasia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
40649013 Agenesis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
40649013 Agenesis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
753828014 Congenital absence (morphologic abnormality) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
753828014 Congenital absence (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital absence (morphologic abnormality) Is a Aplasia true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence (morphologic abnormality) Is a anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence (morphologic abnormality) Is a Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence (morphologic abnormality) Is a Absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group
Acephalocheiria Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 6
Acephalogaster Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
Acephalocheiria Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 8
Single umbilical artery Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Acephalorhachia Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Acephalorhachia Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Acephalobrachius (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital complete absence of lower limb (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Agenesis of both forepaws and both hindpaws Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital complete absence of limb Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Acephalothorax Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Acephalothorax Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Tetra-amelia syndrome Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Acephalogaster Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Acephalorhachia Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
Acephalobrachius (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
Aglossia-adactyly syndrome Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Adactyly Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Acephaly Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Acraniate monster Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Left atrial appendage absent Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Podencephalus Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Longitudinal absence of radius AND ulna Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Longitudinal absence of radius AND ulna Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
Transverse deficiency of toe Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital aniridia (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Aniridia type 1 (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Aniridia type 2 Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
11p partial monosomy syndrome Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital absence of liver and gallbladder (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital absence of mouth (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital absence of breast with absent nipple Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital absence of breast (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital absence of auricle with atresia of auditory canal Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
Ear auricle and external auditory canal absent Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Ear auricle and external auditory canal absent Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital absence of eye bulge Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital absence of humerus Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital absence of thyroid gland Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypogonadism with prune belly syndrome (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
Prune belly syndrome (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 5
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 5
Incomplete congenital absence of thigh AND leg Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of urethra Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of vena cava Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of coronary artery (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of vas deferens (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of patella Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of pulmonary valve Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
aplasie congénitale de l'utérus et des deux tiers supérieurs du vagin avec développement normal des caractères sexuels secondaires et caryotype normal Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of sternum Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of membranous labyrinth (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of uterus Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of ear lobe Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of salivary gland Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Anonychia Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital absence of uvula Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of left pulmonary artery Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of rectum (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of external auditory canal (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of superior vena cava Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of pectoral muscle (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of small intestine Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Septo-optic dysplasia sequence Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Phocomelia (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital aphakia (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Holoacardius acephalus Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of skeletal muscle Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of right pulmonary artery Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of coronary sinus Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of vein (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Holoacardius amorphus Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Septo-optic dysplasia sequence Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Hemimyelia Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of upper arm AND forearm Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital absence of upper arm AND forearm Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Cleft hand with syndactyly (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Pulmonary atresia with absent pulmonary artery Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Transverse deficiency of arm, upper arm level - long (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Transverse deficiency of arm, upper arm level - short Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Acrania Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cleft hand with polydactyly Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cleft hand - central (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Transverse deficiency of upper limb Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital amputation of upper limb Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital cleft hand Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Absence of septum pellucidum (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
hémimélie d'un membre supérieur Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Ectrodactyly (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectrodactyly-ectodermal dysplasia-clefting syndrome Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cleft hand - first cleft Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Transverse deficiency lower limb - knee level Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Transverse deficiency of upper limb Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
Transverse deficiency of lower limb Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital cleft hand Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital amputation of upper limb Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Partial agenesis of pericardium Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Transverse deficiency of arm, upper arm level - short Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
Partial congenital absence of limb Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Transverse deficiency of arm, upper arm level - long (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
Transverse deficiency lower limb - metatarsal level Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1

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