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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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hypoplasia Is a Maturation defect true Inferred relationship Some
Hypoplasia Is a anomalie du développement false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital hypoplasia of pulmonary valve Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of radius Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of renal pelvis Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of rib Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of squamosal bone Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of supraoccipital bone Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of talus Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of tarsal bone Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of thymus Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of tibia Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of tympanic anulus Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of ulna Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of vas deferens Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of vomer Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of zygomatic bone Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of choroid Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital alveolar hypoplasia of mandible Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital alveolar hypoplasia of maxilla Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital transverse maxillary hypoplasia Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital vertical maxillary hypoplasia Associated morphology True Hypoplasia Inferred relationship Some 1
Spinal cord hypoplasia Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplasia of eyelid Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplasia of eye muscle Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplastic thumb-Blauth 1 Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplastic thumb-Blauth 2 Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplastic thumb-Blauth 3 Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplastic thumb-Blauth 4 (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplastic thumb-Blauth 5 Associated morphology True Hypoplasia Inferred relationship Some 1
Deep vein hypoplasia Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital thyroid hypoplasia Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital adrenal hypoplasia, X-linked (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Granular cell hypoplasia Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplasia of brain gyri Associated morphology True Hypoplasia Inferred relationship Some 1
Sectorial hypoplasia of optic disc Associated morphology True Hypoplasia Inferred relationship Some 1
Right atrial hypoplasia Associated morphology True Hypoplasia Inferred relationship Some 1
Left atrial hypoplasia Associated morphology True Hypoplasia Inferred relationship Some 1
Left ventricular hypoplasia Associated morphology True Hypoplasia Inferred relationship Some 1
Diffuse hypoplasia of left ventricle (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplasia of left ventricular outflow tract Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplasia of left ventricular outflow tract and trabecular area Associated morphology True Hypoplasia Inferred relationship Some 1
Pulmonary valve cusp hypoplasia Associated morphology True Hypoplasia Inferred relationship Some 1
Pulmonary valve ring hypoplasia Associated morphology True Hypoplasia Inferred relationship Some 1
Aortic valve ring hypoplasia Associated morphology False Hypoplasia Inferred relationship Some 1
Hypoplasia of aortic valve cusp Associated morphology True Hypoplasia Inferred relationship Some 1
Tubular hypoplasia of aorta Associated morphology True Hypoplasia Inferred relationship Some 1
Pulmonary trunk hypoplasia Associated morphology True Hypoplasia Inferred relationship Some 1
Postductal hypoplasia of aorta Associated morphology True Hypoplasia Inferred relationship Some 1
Laryngeal hypoplasia Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplasia of vagina Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplasia of upper limb Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplasia of thumb Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplasia of nipple Associated morphology True Hypoplasia Inferred relationship Some 1
Secondary pulmonary hypoplasia Associated morphology True Hypoplasia Inferred relationship Some 1
Primary pulmonary hypoplasia Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of fovea centralis (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of right pulmonary artery (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of left pulmonary artery (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Pulmonary venous hypoplasia (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Aortic arch hypoplasia between subclavian and common carotid arteries (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Aortic arch hypoplasia distal to subclavian artery (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplasia of infundibular septum (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplasia of trabecular portion of right ventricle (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Aortic arch hypoplasia between carotid arteries (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplasia of mitral valve annulus (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplasia of trabecular portion of left ventricle (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of nasal septum Associated morphology True Hypoplasia Inferred relationship Some 2
Hypoplasia of pulmonary cusps of absent pulmonary valve type (disorder) Associated morphology True Hypoplasia Inferred relationship Some 2
Lissencephaly co-occurrent with congenital cerebellar hypoplasia (disorder) Associated morphology False Hypoplasia Inferred relationship Some 3
A rare form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of this disorder. Associated morphology False Hypoplasia Inferred relationship Some 3
A severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death. Associated morphology False Hypoplasia Inferred relationship Some 3
A rare form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (<= -3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres. Associated morphology False Hypoplasia Inferred relationship Some 3
A severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum. Associated morphology False Hypoplasia Inferred relationship Some 3
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder) Associated morphology False Hypoplasia Inferred relationship Some 2
A rare, genetic form of pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy that manifests clinically with uncoordinated sucking and swallowing, and generalized clonus in the neonate. In early childhood, spasticity, chorea/dyskinesia, seizures and progressive microcephaly develop. Voluntary motor development is lacking. Associated morphology True Hypoplasia Inferred relationship Some 2
A rare, genetic form of pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy that manifests clinically with uncoordinated sucking and swallowing, and generalized clonus in the neonate. In early childhood, spasticity, chorea/dyskinesia, seizures and progressive microcephaly develop. Voluntary motor development is lacking. Associated morphology False Hypoplasia Inferred relationship Some 3
A rare genetic syndromic intellectual disability characterized by language delay and mild to moderate intellectual disability associated with truncal obesity, congenital nonprogressive retinal dystrophy with poor night vision and reduced visual acuity, and micropenis in males. Cataracts may occur in the second or third decade of life. Associated morphology False Hypoplasia Inferred relationship Some 4
Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibulo-ulnar dysostosis with renal anomalies. It has been described in two siblings born to non-consanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait. Associated morphology False Hypoplasia Inferred relationship Some 4
Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibulo-ulnar dysostosis with renal anomalies. It has been described in two siblings born to non-consanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait. Associated morphology False Hypoplasia Inferred relationship Some 5
Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 siblings so far and characterized 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 Some 2
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder) Associated morphology True Hypoplasia Inferred relationship Some 2
Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct. Associated morphology False Hypoplasia Inferred relationship Some 2
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterized by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait. Associated morphology False Hypoplasia Inferred relationship Some 7
A rare, congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis. Associated morphology True Hypoplasia Inferred relationship Some 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 Some 1
A rare, congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis. Associated morphology False Hypoplasia Inferred relationship Some 3
Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype. Associated morphology True Hypoplasia Inferred relationship Some 2
Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype. Associated morphology False Hypoplasia Inferred relationship Some 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 Some 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 Some 3
Congenital pontocerebellar hypoplasia type 5 (disorder) Associated morphology True Hypoplasia Inferred relationship Some 2
Congenital pontocerebellar hypoplasia type 5 (disorder) Associated morphology False Hypoplasia Inferred relationship Some 3
A severe, genetic form of pontocerebellar hypoplasia (PCH) characterised by delayed neocortical maturation with underdeveloped cerebral hemispheres and pontocerebellar hypoplasia and a severely affected vermis. Clinically, the disorder manifests with prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death. Associated morphology True Hypoplasia Inferred relationship Some 2
A severe, genetic form of pontocerebellar hypoplasia (PCH) characterised by delayed neocortical maturation with underdeveloped cerebral hemispheres and pontocerebellar hypoplasia and a severely affected vermis. Clinically, the disorder manifests with prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death. Associated morphology False Hypoplasia Inferred relationship Some 3
A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized 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 Some 2
A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized 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 Some 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 Some 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 Some 3
Pontocerebellar hypoplasia type 8 (PCH8) is a novel very rare form of pontocerebellar hypoplasia characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum. Associated morphology True Hypoplasia Inferred relationship Some 2
Pontocerebellar hypoplasia type 8 (PCH8) is a novel very rare form of pontocerebellar hypoplasia characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum. Associated morphology False Hypoplasia Inferred relationship Some 3
X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities. Associated morphology True Hypoplasia Inferred relationship Some 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 Some 2

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