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308490002: Pathological developmental process (qualifier value)

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
451847013 Pathological developmental process en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
705033019 Pathological developmental process (qualifier value) 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
Pathological developmental process Is a Pathological process true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Thoracolumbosacral spina bifida aperta (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Thoracolumbosacral spina bifida aperta (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Thoracolumbosacral spina bifida aperta (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Thoracolumbosacral spina bifida aperta (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
Thoracolumbosacral spina bifida aperta (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 5
Thoracolumbosacral spina bifida aperta (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 6
Thoracolumbosacral spina bifida aperta (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 7
Thoracolumbosacral spina bifida aperta (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 8
Spina bifida aperta of upper thoracic spine (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Spina bifida aperta of upper thoracic spine (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Spina bifida aperta of upper thoracic spine (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Spina bifida aperta of upper thoracic spine (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Single umbilical cord artery type III (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Single umbilical cord artery type IV (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Undescended right testicle Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Undescended left testicle Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
X-linked congenital generalized hypertrichosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
X-linked complicated corpus callosum dysgenesis (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
X-linked complicated corpus callosum dysgenesis (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Mesomelic dysplasia of upper limb (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Retinitis pigmentosa-deafness syndrome type 3 (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Thoracoomphalopagus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Thoracoomphalopagus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Thoracoomphalopagus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Ventriculomegaly due to developmental anomaly Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A subtype of Waardenburg syndrome (WS) with characteristics of congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum. Caused by a heterozygous mutation in the paired box-containing PAX3 gene on chromosome 2q36.1. In the majority of cases, WS1 is transmitted as an autosomal dominant disorder with a large variable inter and intrafamilial expressivity. Some affected patients present with a de novo mutation. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A subtype of Waardenburg syndrome (WS) with characteristics of congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum. Caused by a heterozygous mutation in the paired box-containing PAX3 gene on chromosome 2q36.1. In the majority of cases, WS1 is transmitted as an autosomal dominant disorder with a large variable inter and intrafamilial expressivity. Some affected patients present with a de novo mutation. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
An autosomal dominant subtype of Waardenburg syndrome (WS) with characteristics of varying degrees of deafness and pigmentation anomalies of eyes, hair and skin but without dystopia canthorum. The disease is genetically very heterogeneous, mutations have been found in MITF (3p14-p13; subtype designated as WS2A), SNAI2 (8q11.21; WS2D), and SOX10 (22q13.1; WS2E) genes. Furthermore WS2 loci have been mapped to chromosome 1p21-p13.3 (subtype designated as WS2B) and to chromosome 8p23 (designated as WS2C). Digenic inheritance of MITF mutation in combination a TYR mutation (and/or the TYRR402Q hypomorphic allele) has been reported in two families with WS2 and ocular albinism. In the majority of cases, WS2 is transmitted as an autosomal dominant disorder with a large variable inter and intrafamilial expressivity. Some affected patients present with a de novo mutation. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
An autosomal dominant subtype of Waardenburg syndrome (WS) with characteristics of varying degrees of deafness and pigmentation anomalies of eyes, hair and skin but without dystopia canthorum. The disease is genetically very heterogeneous, mutations have been found in MITF (3p14-p13; subtype designated as WS2A), SNAI2 (8q11.21; WS2D), and SOX10 (22q13.1; WS2E) genes. Furthermore WS2 loci have been mapped to chromosome 1p21-p13.3 (subtype designated as WS2B) and to chromosome 8p23 (designated as WS2C). Digenic inheritance of MITF mutation in combination a TYR mutation (and/or the TYRR402Q hypomorphic allele) has been reported in two families with WS2 and ocular albinism. In the majority of cases, WS2 is transmitted as an autosomal dominant disorder with a large variable inter and intrafamilial expressivity. Some affected patients present with a de novo mutation. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital kyphoscoliosis (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital pes cavus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital contracture of gastrocnemius muscle (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital varus deformity of foot Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital varus deformity of foot Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital complex varus foot deformity Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital complex varus foot deformity Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital talipes calcaneus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital talipes calcaneus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital talipes equinus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital talipes equinus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital talipes calcaneovalgus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital talipes calcaneovalgus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital talipes calcaneovalgus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital forefoot varus Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital forefoot varus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital rearfoot varus (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital rearfoot varus (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Phocomelia of lower limb Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Longitudinal deficiency of foot Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Longitudinal deficiency of part of limb (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Longitudinal deficiency of upper and lower limbs Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Longitudinal deficiency of upper and lower limbs Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Reduction deformity of upper limb Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Reduction deformity of lower limb Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Longitudinal deficiency of limb Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Spina bifida without hydrocephalus - open Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Spina bifida without hydrocephalus - open Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Thoracic spina bifida without hydrocephalus - open Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Lumbar spina bifida without hydrocephalus - open Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Sacral spina bifida without hydrocephalus - open Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Cervical spina bifida without hydrocephalus - open Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Spina bifida with hydrocephalus - open Pathological process (attribute) False Pathological developmental process Inferred relationship Some 5
Cervical spina bifida with hydrocephalus - open Pathological process (attribute) False Pathological developmental process Inferred relationship Some 5
Sacral spina bifida with hydrocephalus - open Pathological process (attribute) False Pathological developmental process Inferred relationship Some 5
Lumbosacral spina bifida aperta with hydrocephalus Pathological process (attribute) False Pathological developmental process Inferred relationship Some 7
Cervicothoracic spina bifida aperta with hydrocephalus Pathological process (attribute) False Pathological developmental process Inferred relationship Some 7
Congenital positional talipes (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital positional talipes (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital pes planus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital pes planus of bilateral feet (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital pes planus of bilateral feet (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital pes cavus of bilateral feet (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital pes cavus of bilateral feet (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital pes cavus of right foot (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital pes cavus of left foot (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormal shape of arch of cervical vertebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Wrinkly skin syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital claw toe Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital tortuosity of branch of aortic arch (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed. Rachischisis totalis (holorachischisis) is the extreme form in which the entire spinal cord remains open. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Rachischisis with hydrocephalus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 6
Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed. Rachischisis partialis (merorachischisis) is the partial form where the spinal cord is partially closed and partially open. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed. Rachischisis partialis (merorachischisis) is the partial form where the spinal cord is partially closed and partially open. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed. Rachischisis partialis (merorachischisis) is the partial form where the spinal cord is partially closed and partially open. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed. Rachischisis partialis (merorachischisis) is the partial form where the spinal cord is partially closed and partially open. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Thoracolumbar spina bifida without hydrocephalus - closed Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Thoracolumbar spina bifida with hydrocephalus - closed (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
A rare closed neural tube defect characterized by cystic dilatation of the central canal of the spinal cord, herniating through a posterior vertebral arch defect (spina bifida) into an expanded cerebrospinal fluid (CSF) filled dural sac (meningocele). It can be located at the caudal part of the spinal cord (terminal myelocystocele) or above conus (non-terminal myelocystocele). Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
A rare closed neural tube defect characterized by cystic dilatation of the central canal of the spinal cord, herniating through a posterior vertebral arch defect (spina bifida) into an expanded cerebrospinal fluid (CSF) filled dural sac (meningocele). It can be located at the caudal part of the spinal cord (terminal myelocystocele) or above conus (non-terminal myelocystocele). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Cervical myelocystocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
Thoracic myelocystocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
Lumbar myelocystocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
syndrome d'Okamoto Pathological process (attribute) False Pathological developmental process Inferred relationship Some 5
Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
Cervicothoracic spina bifida aperta Pathological process (attribute) False Pathological developmental process Inferred relationship Some 6
A rare disorder that presents as a flat neural placode (at the level of the skin of the back) that is exposed to the environment. The lack of expansion of the subarachnoid space distinguishes this lesion from myelomeningocele. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
A rare disorder that presents as a flat neural placode (at the level of the skin of the back) that is exposed to the environment. The lack of expansion of the subarachnoid space distinguishes this lesion from myelomeningocele. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare disorder that presents as a flat neural placode (at the level of the skin of the back) that is exposed to the environment. The lack of expansion of the subarachnoid space distinguishes this lesion from myelomeningocele. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3

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