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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
Colobomatous cyst of orbit Pathological process True Pathological developmental process Inferred relationship Some 1
Colobomatous cyst of orbit Pathological process True Pathological developmental process Inferred relationship Some 2
Congenital anophthalmos with orbital implant Pathological process True Pathological developmental process Inferred relationship Some 1
QRICH1-related intellectual disability, chondrodysplasia syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
QRICH1-related intellectual disability, chondrodysplasia syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Fetal encasement syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Congenital combined bony and soft tissue deformity of orbit Pathological process True Pathological developmental process Inferred relationship Some 1
Congenital combined bony and soft tissue deformity of orbit Pathological process True Pathological developmental process Inferred relationship Some 2
Congenital complete absence of nasolacrimal drainage system Pathological process True Pathological developmental process Inferred relationship Some 1
Congenital contraction of orbit Pathological process True Pathological developmental process Inferred relationship Some 1
Keppen Lubinsky syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Pierpont syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Microcephalic primordial dwarfism, insulin resistance syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
RARS-related autosomal recessive hypomyelinating leucodystrophy Pathological process True Pathological developmental process Inferred relationship Some 3
Congenital anomaly of left retina Pathological process True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of right retina Pathological process True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of left lacrimal drainage system Pathological process True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of right lacrimal drainage system Pathological process True Pathological developmental process Inferred relationship Some 1
Bilateral congenital abnormality of lacrimal drainage systems Pathological process True Pathological developmental process Inferred relationship Some 1
Bilateral congenital abnormality of lacrimal drainage systems Pathological process True Pathological developmental process Inferred relationship Some 2
Congenital vascular malformation of left orbit proper Pathological process True Pathological developmental process Inferred relationship Some 1
Congenital vascular malformation of right orbit proper Pathological process True Pathological developmental process Inferred relationship Some 1
Bilateral congenital malformation of blood vessel of orbits proper Pathological process True Pathological developmental process Inferred relationship Some 1
Paraspadias Pathological process True Pathological developmental process Inferred relationship Some 2
Perineal hypospadias Pathological process True Pathological developmental process Inferred relationship Some 2
SYNGAP1-related developmental and epileptic encephalopathy Pathological process True Pathological developmental process Inferred relationship Some 2
PRUNE1-related neurological syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
RNF13-related severe early-onset epileptic encephalopathy Pathological process True Pathological developmental process Inferred relationship Some 1
Pancreatic agenesis, holoprosencephaly syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Pancreatic agenesis, holoprosencephaly syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Early-onset calcifying leucoencephalopathy, skeletal dysplasia Pathological process True Pathological developmental process Inferred relationship Some 2
Single umbilical cord artery type II Pathological process True Pathological developmental process Inferred relationship Some 2
Single umbilical cord artery type I Pathological process True Pathological developmental process Inferred relationship Some 2
Single umbilical cord artery type III Pathological process True Pathological developmental process Inferred relationship Some 2
Single umbilical cord artery type IV Pathological process True Pathological developmental process Inferred relationship Some 2
EPHB4-related lymphatic-related hydrops fetalis Pathological process True Pathological developmental process Inferred relationship Some 1
PIEZO1-related generalised lymphatic dysplasia with non-immune hydrops fetalis Pathological process True Pathological developmental process Inferred relationship Some 1
CELSR1-related late-onset primary lymphoedema Pathological process True Pathological developmental process Inferred relationship Some 1
Congenital primary lymphoedema of Gordon Pathological process True Pathological developmental process Inferred relationship Some 1
GJC2-related late-onset primary lymphoedema Pathological process True Pathological developmental process Inferred relationship Some 1
3-methylglutaconic aciduria type 9 Pathological process True Pathological developmental process Inferred relationship Some 1
Primary desmosis coli Pathological process True Pathological developmental process Inferred relationship Some 1
Anterior maxillary protrusion, strabismus, intellectual disability syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy Pathological process True Pathological developmental process Inferred relationship Some 3
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy Pathological process True Pathological developmental process Inferred relationship Some 5
Anterior maxillary protrusion, strabismus, intellectual disability syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome Pathological process True Pathological developmental process Inferred relationship Some 4
1p35.2 microdeletion syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Complex lethal osteochondrodysplasia Pathological process True Pathological developmental process Inferred relationship Some 1
Mixed cystic lymphatic malformation Pathological process True Pathological developmental process Inferred relationship Some 1
Spondyloepiphyseal dysplasia Stanescu type Pathological process True Pathological developmental process Inferred relationship Some 2
Kaposiform lymphangiomatosis Pathological process True Pathological developmental process Inferred relationship Some 1
PCNA-related progressive neurodegenerative photosensitivity syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
GCGR-related hyperglucagonaemia Pathological process True Pathological developmental process Inferred relationship Some 1
9q33.3q34.11 microdeletion syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
16p13.2 microdeletion syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Xq25 microduplication syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
17q24.2 microdeletion syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
9q21.13 microdeletion syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Lethal brain and heart developmental defects syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Lethal brain and heart developmental defects syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Lethal brain and heart developmental defects syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
11q22.2q22.3 microdeletion syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
19p13.3 microduplication syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
20q11.2 microdeletion syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
20q11.2 microdeletion syndrome Pathological process True Pathological developmental process Inferred relationship Some 4
8q24.3 microdeletion syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
8q24.3 microdeletion syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
SIM1-related Prader-Willi-like syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
SIM1-related Prader-Willi-like syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
SIM1-related Prader-Willi-like syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
MAGEL2-related Prader-Willi-like syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
MAGEL2-related Prader-Willi-like syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
MAGEL2-related Prader-Willi-like syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Supratip dysplasia Pathological process True Pathological developmental process Inferred relationship Some 1
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Pathological process True Pathological developmental process Inferred relationship Some 4
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Pathological process True Pathological developmental process Inferred relationship Some 5
Duane retraction syndrome with congenital deafness Pathological process True Pathological developmental process Inferred relationship Some 1
Duane retraction syndrome with congenital deafness Pathological process True Pathological developmental process Inferred relationship Some 2
Familial congenital nasolacrimal duct obstruction Pathological process True Pathological developmental process Inferred relationship Some 1
Congenital peripapillary staphyloma Pathological process True Pathological developmental process Inferred relationship Some 1
Congenital peripapillary staphyloma Pathological process True Pathological developmental process Inferred relationship Some 2
Congenital peripapillary staphyloma Pathological process True Pathological developmental process Inferred relationship Some 3
Frontorhiny Pathological process True Pathological developmental process Inferred relationship Some 1
Frontorhiny Pathological process True Pathological developmental process Inferred relationship Some 2
Total placenta praevia with intrapartum haemorrhage Pathological process True Pathological developmental process Inferred relationship Some 1
Variation of placental position Pathological process True Pathological developmental process Inferred relationship Some 1
Placenta praevia partialis Pathological process True Pathological developmental process Inferred relationship Some 1
Placenta praevia Pathological process True Pathological developmental process Inferred relationship Some 1

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