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55199003: Hypoplasia (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
91766011 Hypoplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
91769016 Hypocellularity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
793513011 Hypoplasia (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
91766011 Hypoplasia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
91766011 Hypoplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
91769016 Hypocellularity en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
91769016 Hypocellularity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
91770015 Acquired hypoplasia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
793513011 Hypoplasia (morphologic abnormality) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
793513011 Hypoplasia (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
Hypoplasia Is a Maturation defect true Inferred relationship Existential restriction modifier (core metadata concept)
Hypoplasia Is a anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital hypoplasia of pulmonary valve (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of radius Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of renal pelvis (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of rib (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of squamosal bone Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of supraoccipital bone Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of talus (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of tarsal bone Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of thymus Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of tibia Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of tympanic anulus (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of ulna Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of vas deferens Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of vomer Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of zygomatic bone (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of choroid Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital alveolar hypoplasia of mandible Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital alveolar hypoplasia of maxilla Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital transverse maxillary hypoplasia Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital vertical maxillary hypoplasia (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinal cord hypoplasia Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplasia of eyelid Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplasia of eye muscle Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplastic thumb-Blauth 1 (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplastic thumb-Blauth 2 Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplastic thumb-Blauth 3 (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplastic thumb-Blauth 4 Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplastic thumb-Blauth 5 (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Deep vein hypoplasia Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital thyroid hypoplasia Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital adrenal hypoplasia, X-linked (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Granular cell hypoplasia Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplasia of brain gyri Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Sectorial hypoplasia of optic disc Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Right atrial hypoplasia Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Left atrial hypoplasia (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Left ventricular hypoplasia Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Diffuse hypoplasia of left ventricle Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplasia of left ventricular outflow tract (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplasia of left ventricular outflow tract and trabecular area Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Pulmonary valve cusp hypoplasia Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Pulmonary valve ring hypoplasia Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Aortic valve ring hypoplasia Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplasia of aortic valve cusp Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Tubular hypoplasia of aorta Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Pulmonary trunk hypoplasia Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Postductal hypoplasia of aorta Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Laryngeal hypoplasia Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplasia of vagina Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplasia of upper limb Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplasia of thumb Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplasia of nipple Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Secondary pulmonary hypoplasia Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Primary pulmonary hypoplasia Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of fovea centralis (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of right pulmonary artery (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of left pulmonary artery (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Pulmonary venous hypoplasia (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Aortic arch hypoplasia between subclavian and common carotid arteries (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Aortic arch hypoplasia distal to subclavian artery (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplasia of infundibular septum (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplasia of trabecular portion of right ventricle (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Aortic arch hypoplasia between carotid arteries Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplasia of mitral valve annulus Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplasia of trabecular portion of left ventricle (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of nasal septum Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypoplasia of pulmonary cusps of absent pulmonary valve type (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Lissencephaly co-occurrent with congenital cerebellar hypoplasia (disorder) Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Lissencephaly with cerebellar hypoplasia type B Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Lissencephaly with cerebellar hypoplasia type C Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type D (disorder) Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Lissencephaly with cerebellar hypoplasia type F Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder) Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital pontocerebellar hypoplasia type 2 (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital pontocerebellar hypoplasia type 2 (disorder) Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
MORM syndrome Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 siblings so far and characterised by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities. Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Syndromic hypoplasia of orbital border (disorder) Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 7
L1 syndrome Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy. Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
L1 syndrome Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital pontocerebellar hypoplasia type 7 (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital pontocerebellar hypoplasia type 7 (disorder) Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and severe cerebral cortical atrophy associated with pontocerebellar hypoplasia with the pons and cerebellum equally affected. Clinically the disorder manifests at birth with hypotonia, clonus, epilepsy, impaired swallowing and from infancy by progressive microcephaly, spasticity and lactic acidosis. Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and severe cerebral cortical atrophy associated with pontocerebellar hypoplasia with the pons and cerebellum equally affected. Clinically the disorder manifests at birth with hypotonia, clonus, epilepsy, impaired swallowing and from infancy by progressive microcephaly, spasticity and lactic acidosis. Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital pontocerebellar hypoplasia type 5 Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital pontocerebellar hypoplasia type 5 Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital pontocerebellar hypoplasia type 4 (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital pontocerebellar hypoplasia type 4 (disorder) Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare, genetic form of pontocerebellar hypoplasia (PCH) characterised by neocortical and pontocerebellar hypoplasia with pons and cerebellum equally affected and that clinically manifests with neonatal hypotonia and impaired swallowing followed by seizures, optic atrophy and short stature from infancy onward. Movement disorders, as seen in other forms of PCH, are absent. Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare, genetic form of pontocerebellar hypoplasia (PCH) characterised by neocortical and pontocerebellar hypoplasia with pons and cerebellum equally affected and that clinically manifests with neonatal hypotonia and impaired swallowing followed by seizures, optic atrophy and short stature from infancy onward. Movement disorders, as seen in other forms of PCH, are absent. Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
A severe, genetic form of pontocerebellar hypoplasia (PCH) characterized by spinal cord anterior horn cell degeneration in addition to pontocerebellar hypoplasia. Clinically, patients manifest with a severe global development deficit that is evident early on from difficulties in feeding and swallowing. Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
A severe, genetic form of pontocerebellar hypoplasia (PCH) characterized by spinal cord anterior horn cell degeneration in addition to pontocerebellar hypoplasia. Clinically, patients manifest with a severe global development deficit that is evident early on from difficulties in feeding and swallowing. Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital pontocerebellar hypoplasia type 8 (disorder) Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital pontocerebellar hypoplasia type 8 (disorder) Associated morphology False Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked intellectual disability with cerebellar hypoplasia syndrome Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation. Associated morphology True Hypoplasia Inferred relationship Existential restriction modifier (core metadata concept) 2

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