43451003: Congenital deficiency (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

72478017 Congenital deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

780465010 Congenital deficiency (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital deficiency	est un(e) (attribut)	Congenital anomaly	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital iodine deficiency syndrome	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Congenital hypothyroidism without goitre	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Congenital thyroid hypoplasia	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Congenital atrophy of thyroid	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Neurologic form of cretinism	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Congenital hypothyroidism with diffuse goitre	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Sporadic cretinism	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Congenital malposition of the thyroid gland	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Pituitary dwarfism NOS	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Other specified pituitary dwarfism	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Albinism-deafness syndrome of Tietz (disorder)	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Ziprkowski-Margolis syndrome (disorder)	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Phylloid hypomelanosis (disorder)	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Horner's teeth	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some	1
Congenital myelin deficiency of the optic disc	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some	1
Congenital hypopigmentation of choroid	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some	1
Congenital pancreatic trypsin deficiency (disorder)	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some	1
Congenital pancreatic enterokinase deficiency	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some	1
Endemic congenital iodine deficiency syndrome of myxedematous type (disorder)	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
cutis laxa avec ostéodystrophie	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some	2
cutis laxa avec ostéodystrophie	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some	2
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Congenital pancreatic enterokinase deficiency	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some	1
Congenital iodine deficiency syndrome of mixed type (disorder)	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Congenital iodine deficiency syndrome of neurological type (disorder)	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Growth hormone receptor absent	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Growth hormone receptor abnormality	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Klein-Waardenberg's syndrome	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Minimal pigment oculocutaneous albinism	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Temperature-sensitive oculocutaneous albinism	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Horner's teeth	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some	1
Chédiak-Higashi syndrome	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Brown oculocutaneous albinism	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Oculocutaneous albinoidism	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Aland eye disease and ocular albinism	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Albinism	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Cross syndrome	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Autosomal recessive isolated somatotropin deficiency	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Congenital deficiency of pigment of skin	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
albinisme oculo-cutané type 2 (trouble)	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
albinisme oculaire (trouble)	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Pituitary dwarfism with large sella turcica	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Hypopigmentation-immunodeficiency disease	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Laron-type isolated somatotropin defect	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
nanisme hypophysaire	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Pituitary dwarfism with normal somatotropin level AND low somatomedin (disorder)	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Ocular albinism-lentigines-deafness syndrome (disorder)	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
albinoïdisme	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Congenital pancreatic trypsin deficiency (disorder)	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some	1
Punctate oculocutaneous albinoidism	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Rufous albinism	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Oculocutaneous albinism	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Myxedematous form of cretinism	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Partial albinism	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Tyrosinase-negative oculocutaneous albinism	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Ateleiotic dwarfism	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Woolf's syndrome	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Endemic cretinism	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Ocular albinism, type I	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Autosomal recessive ocular albinism	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Autosomal dominant oculocutaneous albinism	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Yellow mutant oculocutaneous albinism	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Pituitary dwarfism with small sella turcica	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Hermansky-Pudlak syndrome	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some
Congenital hypopigmentation of choroid	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some	1
Congenital myelin deficiency of the optic disc	morphologie associée (attribut)	False	Congenital deficiency	Inferred relationship	Some	1

Reference Sets

Canada English language reference set (foundation metadata concept)

US English

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Id	Description	Lang	Type	Status	Case?	Module
72478017	Congenital deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
780465010	Congenital deficiency (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core