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308490002: Pathological developmental process (qualifier value)


Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
451847013 Pathological developmental process en Synonym Active Case insensitive SNOMED CT core
705033019 Pathological developmental process (qualifier value) en Fully specified name Active Case insensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Pathological developmental process Is a Pathological process true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement Pathological process True Pathological developmental process Inferred relationship Some 5
Congenital kyphosis of cervicothoracic spine Pathological process True Pathological developmental process Inferred relationship Some 1
4H leucodystrophy Pathological process True Pathological developmental process Inferred relationship Some 3
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome Pathological process True Pathological developmental process Inferred relationship Some 4
Polymicrogyria due to TUBB2B mutation Pathological process True Pathological developmental process Inferred relationship Some 1
Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Pathological process True Pathological developmental process Inferred relationship Some 1
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Pathological process True Pathological developmental process Inferred relationship Some 2
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Pathological process True Pathological developmental process Inferred relationship Some 3
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Pathological process True Pathological developmental process Inferred relationship Some 4
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Pathological process True Pathological developmental process Inferred relationship Some 5
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Pathological process True Pathological developmental process Inferred relationship Some 6
PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome Pathological process True Pathological developmental process Inferred relationship Some 4
Congenital anomaly of craniovertebral junction Pathological process True Pathological developmental process Inferred relationship Some 1
Congenital kyphosis of cervicothoracic spine Pathological process True Pathological developmental process Inferred relationship Some 2
Congenital fibre-type disproportion myopathy due to MYH7 mutation Pathological process True Pathological developmental process Inferred relationship Some 1
Joint contractures, developmental delay, Pierre Robin syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Joint contractures, developmental delay, Pierre Robin syndrome Pathological process True Pathological developmental process Inferred relationship Some 4
Cerebral ventriculomegaly, cystic kidney disease Pathological process True Pathological developmental process Inferred relationship Some 2
Mandibulofacial dysostosis with alopecia Pathological process True Pathological developmental process Inferred relationship Some 1
Incomplete achromatopsia Pathological process True Pathological developmental process Inferred relationship Some 1
Primary lymphoedema Pathological process True Pathological developmental process Inferred relationship Some 1
Lymphoedema praecox Pathological process True Pathological developmental process Inferred relationship Some 1
Primary lymphoedema tardum Pathological process True Pathological developmental process Inferred relationship Some 1
Hereditary lymphoedema Pathological process True Pathological developmental process Inferred relationship Some 1
Bilateral congenital elevation of scapulae Pathological process True Pathological developmental process Inferred relationship Some 1
Congenital absence of left lower leg and foot Pathological process True Pathological developmental process Inferred relationship Some 1
Congenital absence of left lower leg and foot Pathological process True Pathological developmental process Inferred relationship Some 2
Congenital absence of right lower leg and foot Pathological process True Pathological developmental process Inferred relationship Some 1
Congenital absence of right lower leg and foot Pathological process True Pathological developmental process Inferred relationship Some 2
Warts, immunodeficiency, lymphoedema, anogenital dysplasia syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Lymphoedema, posterior choanal atresia syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Dahlberg Borer Newcomer syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome Pathological process True Pathological developmental process Inferred relationship Some 4
German syndrome Pathological process True Pathological developmental process Inferred relationship Some 4
Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Emberger syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Hereditary lymphoedema type I Pathological process True Pathological developmental process Inferred relationship Some 1
Hereditary lymphoedema type II Pathological process True Pathological developmental process Inferred relationship Some 1
Hereditary lymphoedema and yellow nails Pathological process True Pathological developmental process Inferred relationship Some 1
Cholestasis-oedema syndrome, Norwegian type Pathological process True Pathological developmental process Inferred relationship Some 1
Distichiasis-lymphoedema syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Male sexual precocity with adrenal hyperplasia Pathological process True Pathological developmental process Inferred relationship Some 1
Psychosocial short stature Pathological process True Pathological developmental process Inferred relationship Some 1
Male pseudohermaphroditism due to congenital adrenal hyperplasia Pathological process True Pathological developmental process Inferred relationship Some 1
Female pseudohermaphroditism due to congenital adrenal hyperplasia Pathological process True Pathological developmental process Inferred relationship Some 1
Pseudohermaphroditism due to congenital adrenal hyperplasia Pathological process True Pathological developmental process Inferred relationship Some 1
Bilateral congenital elevation of scapulae Pathological process True Pathological developmental process Inferred relationship Some 2
Hyperostosis cranialis interna Pathological process True Pathological developmental process Inferred relationship Some 1
Hyperostosis cranialis interna Pathological process True Pathological developmental process Inferred relationship Some 2
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Pathological process True Pathological developmental process Inferred relationship Some 4
Progressive scapulohumeroperoneal distal myopathy Pathological process True Pathological developmental process Inferred relationship Some 1
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Female adrenal virilisation Pathological process True Pathological developmental process Inferred relationship Some 1
Primary lymphoedema with systemic and visceral involvement Pathological process True Pathological developmental process Inferred relationship Some 1
Primary lymphoedema with systemic involvement Pathological process True Pathological developmental process Inferred relationship Some 1
Primary lymphoedema with visceral involvement Pathological process True Pathological developmental process Inferred relationship Some 1
Syndromic primary lymphoedema Pathological process True Pathological developmental process Inferred relationship Some 1
PLAA-associated neurodevelopmental disorder Pathological process True Pathological developmental process Inferred relationship Some 5
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Severe myopia, generalised joint laxity, short stature syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Severe myopia, generalised joint laxity, short stature syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Diaphragmatic hernia, short bowel, asplenia syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Diaphragmatic hernia, short bowel, asplenia syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Diaphragmatic hernia, short bowel, asplenia syndrome Pathological process True Pathological developmental process Inferred relationship Some 4
Diaphragmatic hernia, short bowel, asplenia syndrome Pathological process True Pathological developmental process Inferred relationship Some 5
NKX6-2-related autosomal recessive hypomyelinating leucodystrophy Pathological process True Pathological developmental process Inferred relationship Some 8
HELIX syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Congenital fibrosis syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Congenital fibrosis syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Vertical retraction syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Vertical retraction syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Congenital fibrosis of inferior rectus muscle Pathological process True Pathological developmental process Inferred relationship Some 3
Congenital fibrosis of inferior rectus muscle Pathological process True Pathological developmental process Inferred relationship Some 2
Congenital kyphoscoliosis Pathological process True Pathological developmental process Inferred relationship Some 2
Ehlers-Danlos syndrome, hydroxylysine-deficient Pathological process True Pathological developmental process Inferred relationship Some 5
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Pathological process True Pathological developmental process Inferred relationship Some 7
Ehlers-Danlos syndrome kyphoscoliotic type Pathological process True Pathological developmental process Inferred relationship Some 5
Microcephaly with brachydactyly and kyphoscoliosis syndrome Pathological process True Pathological developmental process Inferred relationship Some 7
Congenital lacrimal punctum membrane Pathological process True Pathological developmental process Inferred relationship Some 1
Congenital corneal leucoma Pathological process True Pathological developmental process Inferred relationship Some 1
Congenital distortion of orbit Pathological process True Pathological developmental process Inferred relationship Some 1
Congenital expansion of orbit Pathological process True Pathological developmental process Inferred relationship Some 1
Oculomotor apraxia - Cogan type Pathological process True Pathological developmental process Inferred relationship Some 1
Colobomatous cyst of orbit Pathological process True Pathological developmental process Inferred relationship Some 1

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