702626005: Congenital absence (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital absence	Is a	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital absence of epididymis	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of vulva	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of urinary bladder	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of lacrimal drainage structure (disorder)	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of alimentary tract (disorder)	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of heart structure (disorder)	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of cranial vault	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of muscle AND/OR tendon (disorder)	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital alopecia	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of gonads (disorder)	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Amyelencephalus (disorder)	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of liver	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Agenesis of nerve	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of thymus (disorder)	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of uterus	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of spine	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of spleen	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of nose	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of artery (disorder)	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of gallbladder (disorder)	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Agenesis of eye	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of trachea	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of vagina	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of vein (disorder)	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of penis	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of broad ligament	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of urethra	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of spermatic cord (disorder)	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of skeletal bone	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of adrenal gland	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Renal agenesis (disorder)	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of ureter	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of pancreas	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of genital tubercle	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of prostate	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of jaw	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of ear	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of parathyroid gland	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Agenesis of larynx	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of bile duct (disorder)	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of lung	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Anorectal agenesis	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of bronchus	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of fallopian tube	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Absent eyebrow	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Ablepharon	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital complete absence of limb	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Acephaly	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of liver and gallbladder (disorder)	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Aplasia cutis congenita (disorder)	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of breast (disorder)	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of eye bulge	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of thyroid gland	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital aniridia (disorder)	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial agenesis of pericardium	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of renal papilla	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial congenital absence of limb	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Acephalostomia (disorder)	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of upper limb (disorder)	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital aphakia (disorder)	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of cervix	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Microcornea with glaucoma and absent frontal sinus syndrome (disorder)	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Absence deformity of leg and congenital cataract syndrome (disorder)	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare syndrome characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait.	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of pelvis and lower limb	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Communicating hydrocephalus co-occurrent and due to congenital agenesis of arachnoid villi (disorder)	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Acephalothorax	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Pericardial and diaphragmatic defect syndrome	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of optic chiasma (disorder)	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)
Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterised by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles.	Is a	False	Congenital absence	Inferred relationship	Existential restriction modifier (core metadata concept)

Reference Sets

Concept inactivation indicator attribute value reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
3005274014	Congenital absence	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3005295016	Congenital absence (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3005331014	Congenital agenesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3005274014	Congenital absence	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3005274014	Congenital absence	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3005295016	Congenital absence (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3005295016	Congenital absence (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3005331014	Congenital agenesis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3005331014	Congenital agenesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core